F54C (p.Phe54Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
F54C (p.Phe54Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F54C (p.Phe54Cys) variant details
- p.Phe54Cys
- TOPMed rs1429253751
- gnomAD rs1429253751
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.30
- CADD 11.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available