G52V (p.Gly52Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G52V (p.Gly52Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- gnomAD rs1176630687
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.40
- AlphaMissense 0.08
- MetaLR 0.39
- MetaSVM -0.64
- CADD 17.50
- PolyPhen-2 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available