C12* (p.Cys12Ter) variant of BBS1 (BBSome complex member BBS1)
C12* (p.Cys12Ter) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- gnomAD 11-66510695-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available