P27Q (p.Pro27Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
P27Q (p.Pro27Gln) 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.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 3-10032323-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 1.63
- Population evidence available
- Structural context available
- Literature evidence available