M1L (p.Met1Leu) variant of BBS1 (BBSome complex member BBS1)
M1L (p.Met1Leu) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1306821707
- ClinGen CA381453162
- ClinVar RCV000669884
- ClinVar RCV001855530
- Likely pathogenic
- Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- MetaLR 0.87
- MetaSVM 0.70
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)