I37C (p.Ile37Cys) variant of FANCD2 (Fanconi anemia group D2 protein)
I37C (p.Ile37Cys) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating 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.
I37C (p.Ile37Cys) variant details
- p.Ile37Cys
- rs2086637213
- gnomAD 3-10032873-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available