Variant: chr20-31380526-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 1 0 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00495 0.00000 0.00286
Number of Homozygotes 0 0 0 0

Gene: DNMT3B

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G788A', 'p.G263D']

Average Genotype Quality in variant carriers: 195.00

Average Depth at the site in variant carriers: 112.00

dbSNP ID: rs754921958

ClinVar: chr20-31380526-G-A

UCSC Browser: chr20-31380526-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.059 T
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 1.0 D
Mutation Taster 1 D
Mutation Assessor 2.465 M
LRT 0.000 D
FATHMM -0.51 T
CADD Phred 33 .
CADD Raw 6.856 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 1.654e-05
ExAC SAS 0.0001
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes None