G41S (p.Gly41Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
G41S (p.Gly41Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- ExAC rs759814479
- gnomAD rs759814479
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.57
- CADD 25.40
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available