G71A (p.Gly71Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
G71A (p.Gly71Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- ExAC rs776597302
- gnomAD rs776597302
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available