M1T (p.Met1Thr) variant of BBS4 (BBSome complex member BBS4)
M1T (p.Met1Thr) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome 4; Bardet-Biedl syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1302879683
- ClinGen CA393074972
- ClinVar RCV000514162
- ClinVar RCV002524988
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome 4; Bardet-Biedl syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome 4; Bardet-Biedl syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)