G116V (p.Gly116Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G116V (p.Gly116Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G116V (p.Gly116Val) variant details
- p.Gly116Val
- TOPMed rs1941562241
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.51
- CADD 9.90
- PolyPhen-2 0.35
- SIFT 0.07
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available