A74T (p.Ala74Thr) variant of BBS4 (BBSome complex member BBS4)
A74T (p.Ala74Thr) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs2065388358
- ClinGen CA393076226
- ClinVar RCV003107988
- Ensembl rs2065388358
- Pathogenic
- Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- MutPred 0.74
- ClinVar: Pathogenic (Bardet-Biedl syndrome 4)
- 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)