S58A (p.Ser58Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
S58A (p.Ser58Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- ExAC rs763049820
- gnomAD rs763049820
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.14
- CADD 16.70
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available