G129* (p.Gly129Ter) variant of BBS2 (BBSome complex member BBS2)
G129* (p.Gly129Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G129* (p.Gly129Ter) variant details
- p.Gly129Ter
- TOPMed rs1249764192
- gnomAD rs1249764192
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 36.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available