G54S (p.Gly54Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G54S (p.Gly54Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- TOPMed rs1907099912
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 10.00
- PolyPhen-2 0.07
- SIFT 0.19
- Population evidence available
- Structural context available