G41V (p.Gly41Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
G41V (p.Gly41Val) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- gnomAD 12-52949295-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.74
- CADD 29.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available