S41F (p.Ser41Phe) variant of KRT2 (P35908)
S41F (p.Ser41Phe) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- TOPMed rs1941262157
- gnomAD rs1941262157
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- CADD 22.90
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available