S60N (p.Ser60Asn) variant of KRT2 (P35908)
S60N (p.Ser60Asn) 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.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- ExAC rs745907775
- gnomAD rs745907775
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available