G71V (p.Gly71Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
G71V (p.Gly71Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G71V (p.Gly71Val) variant details
- p.Gly71Val
- ExAC rs776597302
- gnomAD rs776597302
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.47
- CADD 27.60
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available