A38S (p.Ala38Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
A38S (p.Ala38Ser) 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.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- gnomAD 3-10032334-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 2.63
- Population evidence available
- Structural context available
- Literature evidence available