A80V (p.Ala80Val) variant of BBS2 (BBSome complex member BBS2)
A80V (p.Ala80Val) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- rs1964679008
- ClinGen CA395985797
- ClinVar RCV001348618
- gnomAD rs1964679008
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.05
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)