G47C (p.Gly47Cys) variant of KRT2 (P35908)
G47C (p.Gly47Cys) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- TOPMed rs1304951872
- gnomAD rs1304951872
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.54
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available