S51P (p.Ser51Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S51P (p.Ser51Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- Ensembl rs1555191110
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.55
- CADD 21.60
- PolyPhen-2 0.68
- SIFT 0.03
- Population evidence available
- Structural context available