E11E (p.Glu11Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
E11E (p.Glu11Glu) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- rs147426418
- gnomAD 3-10028690-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 6.96
- Population evidence available
- Literature evidence available