A40E (p.Ala40Glu) variant of FANCA (Fanconi anemia group A protein)
A40E (p.Ala40Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- cosmic curated COSV66882
- Ensembl rs563060518
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available