S29* (p.Ser29Ter) variant of FANCD2 (Fanconi anemia group D2 protein)
S29* (p.Ser29Ter) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S29* (p.Ser29Ter) variant details
- p.Ser29Ter
- gnomAD 3-10032311-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 4.22
- Population evidence available
- Structural context available
- Literature evidence available