M48I (p.Met48Ile) variant of FANCC (Fanconi anemia group C protein)
M48I (p.Met48Ile) 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 record also includes structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- Ensembl rs2136100434
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available