S76T (p.Ser76Thr) variant of BBS2 (BBSome complex member BBS2)
S76T (p.Ser76Thr) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S76T (p.Ser76Thr) variant details
- p.Ser76Thr
- rs895169510
- ClinGen CA281485809
- ClinVar RCV001926145
- Ensembl rs895169510
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.00
- SIFT 0.55
- MutPred 0.42
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)