S18Y (p.Ser18Tyr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S18Y (p.Ser18Tyr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- ESP rs147350452
- ExAC rs147350452
- gnomAD rs147350452
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.63
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available