G89A (p.Gly89Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G89A (p.Gly89Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G89A (p.Gly89Ala) variant details
- p.Gly89Ala
- ExAC rs778192358
- TOPMed rs778192358
- gnomAD rs778192358
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.43
- CADD 19.70
- PolyPhen-2 0.94
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available