A91D (p.Ala91Asp) variant of BBS2 (BBSome complex member BBS2)
A91D (p.Ala91Asp) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A91D (p.Ala91Asp) variant details
- p.Ala91Asp
- rs2144193029
- ClinGen CA395985663
- ClinVar RCV001915486
- Ensembl rs2144193029
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.62
- MetaLR 0.16
- MetaSVM -0.96
- SIFT 0.07
- MutPred 0.45
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)