G116C (p.Gly116Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G116C (p.Gly116Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G116C (p.Gly116Cys) variant details
- p.Gly116Cys
- TOPMed rs1907087377
- gnomAD rs1907087377
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available