G114S (p.Gly114Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G114S (p.Gly114Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G114S (p.Gly114Ser) variant details
- p.Gly114Ser
- TOPMed rs1266274182
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.61
- SIFT 0.35
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available