T79P (p.Thr79Pro) variant of BBS2 (BBSome complex member BBS2)
T79P (p.Thr79Pro) 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; Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T79P (p.Thr79Pro) variant details
- p.Thr79Pro
- rs1387025330
- ClinGen CA395985834
- ClinVar RCV000694867
- ClinVar RCV001830524
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.62
- CADD 22.70
- PolyPhen-2 0.30
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome; Bardet-Biedl syndrome 2)
- 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)