G25R (p.Gly25Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
G25R (p.Gly25Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- ExAC rs750200705
- gnomAD rs750200705
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.06
- CADD 6.21
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available