G56E (p.Gly56Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
G56E (p.Gly56Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- ESP rs370316786
- ExAC rs370316786
- TOPMed rs370316786
- gnomAD rs370316786
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available