W5* (p.Trp5Ter) variant of FAS (P25445)
W5* (p.Trp5Ter) in FAS (P25445) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- TOPMed rs1290926270
- gnomAD rs1290926270
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available