Q59* (p.Gln59Ter) variant of BBS2 (BBSome complex member BBS2)
Q59* (p.Gln59Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs121908176
- ClinGen CA253235
- ClinVar RCV000004833
- ClinVar RCV000587533
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)