G39V (p.Gly39Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G39V (p.Gly39Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- ExAC rs773464963
- TOPMed rs773464963
- gnomAD rs773464963
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.52
- CADD 16.90
- PolyPhen-2 0.47
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available