G60S (p.Gly60Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G60S (p.Gly60Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- TOPMed rs1941565333
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.37
- CADD 9.78
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available