R27L (p.Arg27Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
R27L (p.Arg27Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD 12-52949253-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available