E33* (p.Glu33Ter) variant of BBS4 (BBSome complex member BBS4)
E33* (p.Glu33Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- gnomAD 15-72695228-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.69
- CADD 31.00
- PolyPhen-2 0.10
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available