A20A (p.Ala20Ala) variant of FANCD2 (Fanconi anemia group D2 protein)
A20A (p.Ala20Ala) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs2086518226
- gnomAD 3-10028717-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.50
- Population evidence available
- Structural context available
- Literature evidence available