R39S (p.Arg39Ser) variant of FANCA (Fanconi anemia group A protein)
R39S (p.Arg39Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- TOPMed rs2041099499
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available