S62N (p.Ser62Asn) variant of KRT2 (P35908)
S62N (p.Ser62Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S62N (p.Ser62Asn) variant details
- p.Ser62Asn
- ESP rs150554132
- ExAC rs150554132
- TOPMed rs150554132
- gnomAD rs150554132
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.45
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available