A51V (p.Ala51Val) variant of FANCC (Fanconi anemia group C protein)
A51V (p.Ala51Val) in FANCC (Fanconi anemia group C protein) 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 record also includes structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- TOPMed rs1831171292
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available