S35* (p.Ser35Ter) variant of FANCD2 (Fanconi anemia group D2 protein)
S35* (p.Ser35Ter) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S35* (p.Ser35Ter) variant details
- p.Ser35Ter
- gnomAD 3-10032347-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0919
- CADD 1.59
- Population evidence available
- Structural context available
- Literature evidence available