R45L (p.Arg45Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
R45L (p.Arg45Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- ExAC rs200221269
- gnomAD rs200221269
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available