I37L (p.Ile37Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
I37L (p.Ile37Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I37L (p.Ile37Leu) variant details
- p.Ile37Leu
- gnomAD 3-10032307-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 5.08
- Population evidence available
- Structural context available
- Literature evidence available