Variant: chr5-37020942-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: NIPBL

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G5291A', 'p.R1764K']

Average Genotype Quality in variant carriers: 122.00

Average Depth at the site in variant carriers: 58.00

UCSC Browser: chr5-37020942-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.038 D
Polyphen2 HDIV 0.987 D
Polyphen2 HVAR 0.929 D
Mutation Taster 1 D
Mutation Assessor 2.19 M
LRT 0.000 D
FATHMM -0.11 T
CADD Phred 28.5 .
CADD Raw 6.151 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL None
ExAC SAS None
ExAC AFR None
ExAC AMR None
ExAC EAS None
ExAC FIN None
ExAC NFE None
ExAC OTH None
1000 Genomes None