S47F (p.Ser47Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S47F (p.Ser47Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S47F (p.Ser47Phe) variant details
- p.Ser47Phe
- Ensembl rs1452035555
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.73
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available