G56S (p.Gly56Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
G56S (p.Gly56Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- gnomAD 3-10032325-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 1.75
- Population evidence available
- Structural context available
- Literature evidence available