G54S (p.Gly54Ser) variant of KRT2 (P35908)
G54S (p.Gly54Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- ExAC rs749739311
- TOPMed rs749739311
- gnomAD rs749739311
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- CADD 12.80
- PolyPhen-2 0.55
- SIFT 0.48
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available