Variant: chr17-16004984-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 0 1 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00000 0.00676 0.00286
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.C1991T', 'p.T664M']

Average Genotype Quality in variant carriers: 149.00

Average Depth at the site in variant carriers: 89.00

dbSNP ID: rs141130092

ClinVar: chr17-16004984-G-A

UCSC Browser: chr17-16004984-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.017 D
Polyphen2 HDIV 0.457 P
Polyphen2 HVAR 0.105 B
Mutation Taster 1 N
Mutation Assessor 1.1 L
LRT 0.611 N
FATHMM 1.32 T
CADD Phred 5.267 .
CADD Raw 0.257 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 2.471e-05
ExAC SAS 6.056e-05
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 2.997e-05
ExAC OTH 0
1000 Genomes 0.000199681