T37A (p.Thr37Ala) variant of BBS2 (BBSome complex member BBS2)
T37A (p.Thr37Ala) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- rs1284353332
- ClinGen CA395987945
- ClinVar RCV000529326
- gnomAD rs1284353332
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)