G98C (p.Gly98Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G98C (p.Gly98Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G98C (p.Gly98Cys) variant details
- p.Gly98Cys
- ExAC rs750424715
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.47
- CADD 18.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available