D45Y (p.Asp45Tyr) variant of FANCD2 (Fanconi anemia group D2 protein)
D45Y (p.Asp45Tyr) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- gnomAD 3-10032900-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 23.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available