G62A (p.Gly62Ala) variant of KRT13 (Keratin, type I cytoskeletal 13)
G62A (p.Gly62Ala) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G62A (p.Gly62Ala) variant details
- p.Gly62Ala
- ExAC rs752390503
- gnomAD rs752390503
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.50
- CADD 12.00
- PolyPhen-2 0.11
- SIFT 0.23
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available