G118C (p.Gly118Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G118C (p.Gly118Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G118C (p.Gly118Cys) variant details
- p.Gly118Cys
- TOPMed rs1217003781
- gnomAD rs1217003781
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.37
- CADD 17.80
- PolyPhen-2 0.89
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available