R45Q (p.Arg45Gln) variant of KRT18 (Keratin, type I cytoskeletal 18)
R45Q (p.Arg45Gln) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- gnomAD 12-52949307-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available