Q4R (p.Gln4Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
Q4R (p.Gln4Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- ExAC rs745702313
- gnomAD rs745702313
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available