A38V (p.Ala38Val) variant of FANCD2 (Fanconi anemia group D2 protein)
A38V (p.Ala38Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 3-10032335-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 8.74
- Population evidence available
- Structural context available
- Literature evidence available