F54S (p.Phe54Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
F54S (p.Phe54Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F54S (p.Phe54Ser) variant details
- p.Phe54Ser
- TOPMed rs1429253751
- gnomAD rs1429253751
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.27
- CADD 12.60
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available