G104C (p.Gly104Cys) variant of KRT2 (P35908)
G104C (p.Gly104Cys) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G104C (p.Gly104Cys) variant details
- p.Gly104Cys
- gnomAD rs1225472851
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.89
- SIFT 0.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available