E51A (p.Glu51Ala) variant of BBS1 (BBSome complex member BBS1)
E51A (p.Glu51Ala) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 1; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E51A (p.Glu51Ala) variant details
- p.Glu51Ala
- rs760793954
- ClinGen CA381454134
- ClinVar RCV002603652
- ClinVar RCV004744606
- Uncertain significance
- Bardet-Biedl syndrome 1; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.62
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1; 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)