G54A (p.Gly54Ala) variant of KRT13 (Keratin, type I cytoskeletal 13)
G54A (p.Gly54Ala) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- ExAC rs781005051
- TOPMed rs781005051
- gnomAD rs781005051
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- CADD 17.10
- PolyPhen-2 0.23
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available