S15* (p.Ser15Ter) variant of BBS4 (BBSome complex member BBS4)
S15* (p.Ser15Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S15* (p.Ser15Ter) variant details
- p.Ser15Ter
- gnomAD 15-72686551-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0841
- CADD 0.49
- Population evidence available
- Structural context available
- Literature evidence available