A20V (p.Ala20Val) variant of FANCD2 (Fanconi anemia group D2 protein)
A20V (p.Ala20Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- Ensembl rs2124961163
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 13.80
- PolyPhen-2 0.16
- SIFT 0.27
- Population evidence available
- Structural context available