S18P (p.Ser18Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S18P (p.Ser18Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 12-52949225-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.59
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available