M1I (p.Met1Ile) variant of BBS1 (BBSome complex member BBS1)
M1I (p.Met1Ile) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1855918305
- ClinGen CA381453166
- ClinVar RCV002923444
- ClinVar RCV005050662
- Pathogenic
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Bardet-Biedl syndrome; 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)