E3* (p.Glu3Ter) variant of BBS4 (BBSome complex member BBS4)
E3* (p.Glu3Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 15-72686234-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available