Y22* (p.Tyr22Ter) variant of BRIP1 (Fanconi anemia group J protein)
Y22* (p.Tyr22Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y22* (p.Tyr22Ter) variant details
- p.Tyr22Ter
- rs1406859817
- ClinGen CA773832479
- ClinVar RCV001526252
- TOPMed rs1406859817
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)