S15F (p.Ser15Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S15F (p.Ser15Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- gnomAD rs1447813465
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.64
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available