G40R (p.Gly40Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
G40R (p.Gly40Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- ExAC rs773038025
- gnomAD rs773038025
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.58
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.14
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available