S24C (p.Ser24Cys) variant of KRT2 (P35908)
S24C (p.Ser24Cys) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- gnomAD rs910875953
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.42
- CADD 22.00
- PolyPhen-2 0.63
- SIFT 0.17
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available