S55* (p.Ser55Ter) variant of FANCD2 (Fanconi anemia group D2 protein)
S55* (p.Ser55Ter) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S55* (p.Ser55Ter) variant details
- p.Ser55Ter
- gnomAD rs2086639019
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 35.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available