G57V (p.Gly57Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
G57V (p.Gly57Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- TOPMed rs1939960296
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 18.30
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available