E18V (p.Glu18Val) variant of FANCD2 (Fanconi anemia group D2 protein)
E18V (p.Glu18Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- gnomAD 3-10028710-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available