R6L (p.Arg6Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
R6L (p.Arg6Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 12-52949190-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- CADD 16.30
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available