L135H (p.Leu135His) variant of BBS2 (BBSome complex member BBS2)
L135H (p.Leu135His) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L135H (p.Leu135His) variant details
- p.Leu135His
- rs2144181822
- ClinGen CA395984438
- ClinVar RCV002250852
- Ensembl rs2144181822
- Uncertain significance
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.78
- MetaLR 0.79
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.66
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2)
- 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)