Y54C (p.Tyr54Cys) variant of FH (P07954)
Y54C (p.Tyr54Cys) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- rs1270054582
- ClinGen CA345441980
- ClinVar RCV004520593
- TOPMed rs1270054582
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.58
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)