I37T (p.Ile37Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
I37T (p.Ile37Thr) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I37T (p.Ile37Thr) variant details
- p.Ile37Thr
- rs1559369306
- gnomAD 3-10032344-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 4.43
- Population evidence available
- Structural context available
- Literature evidence available