Resource

Id hg38/scores/AlphaMissensecontent_copy
Type allele_score
Version 0
Summary Functional impact of mutations on protein function
Description
Labels
  • reference_genome: hg38/genomes/GRCh38-hg38

Scores (2)

ID Type Default annotation Description Histogram Range Summary
am_pathogenicity float

am_pathogenicity
AlphaMissense Pathogenicity score is a deleteriousness score for missense variants
Small values desc: less pathogenic
Large values desc: more pathogenic
HISTOGRAM FOR am_pathogenicity [0.0001, 1]
n
71,697,556
mean
0.407
sd
0.338
am_class str

-
AlphaMissense Class is a deleteriousness category for missense variants
HISTOGRAM FOR am_class likely_benign, likely_pathogenic, ambiguous

n counts alleles; sd is the population standard deviation.

Alleles

Chromosome Alleles substitution % insertion % deletion % complex % other %
all chromosomes 71697556 100.00% 0.00% 0.00% 0.00% 0.00%
chr1 7183937 100.00% 0.00% 0.00% 0.00% 0.00%
chr2 5406244 100.00% 0.00% 0.00% 0.00% 0.00%
chr3 4088163 100.00% 0.00% 0.00% 0.00% 0.00%
chr4 2843848 100.00% 0.00% 0.00% 0.00% 0.00%
chr5 3369171 100.00% 0.00% 0.00% 0.00% 0.00%
chr6 3545615 100.00% 0.00% 0.00% 0.00% 0.00%
chr7 3441848 100.00% 0.00% 0.00% 0.00% 0.00%
chr8 2405467 100.00% 0.00% 0.00% 0.00% 0.00%
chr9 2887436 100.00% 0.00% 0.00% 0.00% 0.00%
chr10 2841060 100.00% 0.00% 0.00% 0.00% 0.00%
chr11 4283912 100.00% 0.00% 0.00% 0.00% 0.00%
chr12 3621312 100.00% 0.00% 0.00% 0.00% 0.00%
chr13 1294470 100.00% 0.00% 0.00% 0.00% 0.00%
chr14 2280519 100.00% 0.00% 0.00% 0.00% 0.00%
chr15 2541231 100.00% 0.00% 0.00% 0.00% 0.00%
chr16 2981894 100.00% 0.00% 0.00% 0.00% 0.00%
chr17 4141311 100.00% 0.00% 0.00% 0.00% 0.00%
chr18 1134674 100.00% 0.00% 0.00% 0.00% 0.00%
chr19 4643344 100.00% 0.00% 0.00% 0.00% 0.00%
chr20 1698005 100.00% 0.00% 0.00% 0.00% 0.00%
chr21 698557 100.00% 0.00% 0.00% 0.00% 0.00%
chr22 1481489 100.00% 0.00% 0.00% 0.00% 0.00%
chrM 24074 100.00% 0.00% 0.00% 0.00% 0.00%
chrX 2684967 100.00% 0.00% 0.00% 0.00% 0.00%
chrY 175008 100.00% 0.00% 0.00% 0.00% 0.00%

Substitution matrix

ref → alt A C G T
A0
0.00%
6420083
8.95%
5449617
7.60%
5953590
8.30%
C6183248
8.62%
0
0.00%
6963298
9.71%
4909869
6.85%
G4894493
6.83%
6937258
9.68%
0
0.00%
6161594
8.59%
T5955039
8.31%
5445540
7.60%
6423927
8.96%
0
0.00%
ts/tv
0.41
20,699,519 transitions / 50,998,037 transversions

Indel lengths

alleles min max mean median
insertions 0
deletions 0

no insertions

no deletions

Complex alleles

no complex alleles

Files

Filename Size md5
AlphaMissense_hg38.tsv.gz 599.3 MB 46d0028375cf95088bd014ff6855cffd
AlphaMissense_hg38_modified.tsv.gz 599.3 MB 4392511387da48c919dbf9c5bcb34c62
AlphaMissense_hg38_modified.tsv.gz.tbi 668.87 KB 0ab830224dba1887ac79d1a884021023
dataPrep.sh 390.0 B 5c7ae6bac885219a611c1ebbb4205c75
genomic_resource.yaml 2.37 KB 17f1a5208b6e6e13ecd23bca269e0f78
statistics/