Variant: chr17-15973774-T-G

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: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A4266C', 'p.L1422F']

Average Genotype Quality in variant carriers: 96.00

Average Depth at the site in variant carriers: 52.00

dbSNP ID: rs61753150

ClinVar: chr17-15973774-T-G

UCSC Browser: chr17-15973774-T-G

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.003 D
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.998 D
Mutation Taster 1 D
Mutation Assessor 1.67 L
LRT 0.000 D
FATHMM 0.57 T
CADD Phred 25.2 .
CADD Raw 5.029 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0089
ExAC SAS 0.0010
ExAC AFR 0.0018
ExAC AMR 0.0035
ExAC EAS 0
ExAC FIN 0.0213
ExAC NFE 0.0128
ExAC OTH 0.0099
1000 Genomes 0.00399361