A38E (p.Ala38Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
A38E (p.Ala38Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- gnomAD 3-10032335-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 3.45
- Population evidence available
- Structural context available
- Literature evidence available