P45T (p.Pro45Thr) variant of BBS2 (BBSome complex member BBS2)
P45T (p.Pro45Thr) 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 0.53 / 1. The record also includes published literature and structural context.
P45T (p.Pro45Thr) variant details
- p.Pro45Thr
- rs2144193766
- ClinGen CA395986409
- cosmic curated COSV55327
- ClinVar RCV001931845
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.45
- MetaLR 0.49
- MetaSVM 0.06
- SIFT 0.00
- MutPred 0.58
- 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)