C75Y (p.Cys75Tyr) variant of FANCC (Fanconi anemia group C protein)
C75Y (p.Cys75Tyr) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar 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 0.65 / 1. The record also includes population frequency data and structural context.
C75Y (p.Cys75Tyr) variant details
- p.Cys75Tyr
- TOPMed rs1831056324
- gnomAD rs1831056324
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.64
- CADD 24.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available