G48S (p.Gly48Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G48S (p.Gly48Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- ExAC rs748425210
- gnomAD rs748425210
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.27
- CADD 7.69
- PolyPhen-2 0.15
- SIFT 0.46
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available