Q20R (p.Gln20Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
Q20R (p.Gln20Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- gnomAD 12-52949232-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- CADD 5.53
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available