S18C (p.Ser18Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
S18C (p.Ser18Cys) 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.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- ESP rs147350452
- ExAC rs147350452
- gnomAD rs147350452
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available