G14S (p.Gly14Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G14S (p.Gly14Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- ExAC rs767264822
- TOPMed rs767264822
- gnomAD rs767264822
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- CADD 17.50
- PolyPhen-2 0.12
- SIFT 0.19
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available