E50K (p.Glu50Lys) variant of FANCC (Fanconi anemia group C protein)
E50K (p.Glu50Lys) 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.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- Ensembl rs2136100400
- 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