V41* (p.Val41Ter) variant of FANCD2 (Fanconi anemia group D2 protein)
V41* (p.Val41Ter) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V41* (p.Val41Ter) variant details
- p.Val41Ter
- gnomAD 3-10032338-TG-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 2.25
- Population evidence available
- Structural context available
- Literature evidence available