Y19* (p.Tyr19Ter) variant of BRIP1 (Fanconi anemia group J protein)
Y19* (p.Tyr19Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y19* (p.Tyr19Ter) variant details
- p.Tyr19Ter
- gnomAD rs876659588
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 35.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available