G41A (p.Gly41Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
G41A (p.Gly41Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- gnomAD rs1256261258
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available