S109* (p.Ser109Ter) variant of BBS2 (BBSome complex member BBS2)
S109* (p.Ser109Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S109* (p.Ser109Ter) variant details
- p.Ser109Ter
- rs181736797
- ClinGen CA395985406
- ClinVar RCV001381029
- ClinVar RCV003462971
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)