S58N (p.Ser58Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S58N (p.Ser58Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- ExAC rs772590643
- TOPMed rs772590643
- gnomAD rs772590643
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.38
- CADD 23.50
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available