R55T (p.Arg55Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
R55T (p.Arg55Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R55T (p.Arg55Thr) variant details
- p.Arg55Thr
- ExAC rs755849994
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.42
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.41
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available