Q73* (p.Gln73Ter) variant of BBS2 (BBSome complex member BBS2)
Q73* (p.Gln73Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs199940492
- ClinGen CA395985928
- ClinVar RCV001264339
- ClinVar RCV005014316
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.26
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)