S15P (p.Ser15Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S15P (p.Ser15Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- ExAC rs753311520
- gnomAD rs753311520
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available