S71R (p.Ser71Arg) variant of KRT2 (P35908)
S71R (p.Ser71Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- ExAC rs766952518
- gnomAD rs766952518
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available