C3G (p.Cys3Gly) variant of KRT2 (P35908)
C3G (p.Cys3Gly) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C3G (p.Cys3Gly) variant details
- p.Cys3Gly
- ExAC rs746684651
- gnomAD rs746684651
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- CADD 17.70
- PolyPhen-2 0.11
- SIFT 0.46
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available