G17R (p.Gly17Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
G17R (p.Gly17Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- gnomAD rs1239570081
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.56
- CADD 27.90
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available