Q73E (p.Gln73Glu) variant of BBS2 (BBSome complex member BBS2)
Q73E (p.Gln73Glu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q73E (p.Gln73Glu) variant details
- p.Gln73Glu
- rs199940492
- ClinGen CA8066095
- ClinVar RCV003089296
- ESP rs199940492
- Likely benign
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.38
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.26
- CADD 23.10
- PolyPhen-2 0.10
- ClinVar: Likely benign (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)