Q7R (p.Gln7Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q7R (p.Gln7Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- TOPMed rs1315928015
- gnomAD rs1315928015
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available