G89S (p.Gly89Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G89S (p.Gly89Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- ExAC rs757500946
- TOPMed rs757500946
- gnomAD rs757500946
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.25
- CADD 9.83
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available