G58S (p.Gly58Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G58S (p.Gly58Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- ExAC rs777603079
- gnomAD rs777603079
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.28
- CADD 18.60
- PolyPhen-2 0.39
- SIFT 0.76
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available