I39T (p.Ile39Thr) variant of BBS4 (BBSome complex member BBS4)
I39T (p.Ile39Thr) in BBS4 (BBSome complex member BBS4) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs2542931922
- ClinGen CA393075838
- ClinVar RCV002811027
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.43
- MetaLR 0.35
- MetaSVM -0.39
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)