R5* (p.Arg5Ter) variant of BBS4 (BBSome complex member BBS4)
R5* (p.Arg5Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- TOPMed rs1293905470
- gnomAD rs1293905470
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 36.00
- Population evidence available
- Structural context available