R67* (p.Arg67Ter) variant of BBS1 (BBSome complex member BBS1)
R67* (p.Arg67Ter) in BBS1 (BBSome complex member BBS1) 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.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- rs748732460
- gnomAD 11-66514480-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.33
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Literature evidence available