G25D (p.Gly25Asp) variant of KRT18 (Keratin, type I cytoskeletal 18)
G25D (p.Gly25Asp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- Ensembl rs1942417465
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.30
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available