I37F (p.Ile37Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
I37F (p.Ile37Phe) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I37F (p.Ile37Phe) variant details
- p.Ile37Phe
- gnomAD 3-10032302-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 0.97
- Population evidence available
- Structural context available
- Literature evidence available