G83A (p.Gly83Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G83A (p.Gly83Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- ExAC rs746395789
- TOPMed rs746395789
- gnomAD rs746395789
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.33
- CADD 8.41
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available