S44R (p.Ser44Arg) variant of KRT2 (P35908)
S44R (p.Ser44Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- ESP rs372684240
- TOPMed rs372684240
- gnomAD rs372684240
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.23
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available