G46V (p.Gly46Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
G46V (p.Gly46Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD rs1221027800
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available