M1V (p.Met1Val) variant of BBS4 (BBSome complex member BBS4)
M1V (p.Met1Val) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome; Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs773109542
- ClinGen CA7646416
- ClinVar RCV002556528
- ClinVar RCV004749606
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- MutPred 0.99
- ClinVar: Uncertain significance (not specified)
- 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)