C59Y (p.Cys59Tyr) variant of FAS (P25445)
C59Y (p.Cys59Tyr) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C59Y (p.Cys59Tyr) variant details
- p.Cys59Tyr
- TOPMed rs886047459
- gnomAD rs886047459
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available