V49E (p.Val49Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
V49E (p.Val49Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V49E (p.Val49Glu) variant details
- p.Val49Glu
- ExAC rs780343756
- gnomAD rs780343756
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available