R45W (p.Arg45Trp) variant of KRT18 (Keratin, type I cytoskeletal 18)
R45W (p.Arg45Trp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- gnomAD rs1478096062
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available