T27P (p.Thr27Pro) variant of BBS2 (BBSome complex member BBS2)
T27P (p.Thr27Pro) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
T27P (p.Thr27Pro) variant details
- p.Thr27Pro
- rs776681366
- ClinGen CA395988064
- ClinVar RCV002805536
- ClinVar RCV005019395
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.24
- MetaLR 0.16
- MetaSVM -0.87
- SIFT 0.23
- MutPred 0.30
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl s)
- 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)