G104C (p.Gly104Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G104C (p.Gly104Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G104C (p.Gly104Cys) variant details
- p.Gly104Cys
- TOPMed rs868735223
- gnomAD rs868735223
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.36
- CADD 6.64
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available