S58A (p.Ser58Ala) variant of KRT16 (Keratin, type I cytoskeletal 16)
S58A (p.Ser58Ala) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- ExAC rs762772172
- gnomAD rs762772172
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 21.40
- PolyPhen-2 0.29
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available