P27L (p.Pro27Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
P27L (p.Pro27Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 3-10032323-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 3.87
- Population evidence available
- Structural context available
- Literature evidence available