T127R (p.Thr127Arg) variant of BBS2 (BBSome complex member BBS2)
T127R (p.Thr127Arg) 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 Inborn genetic diseases; not provided; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T127R (p.Thr127Arg) variant details
- p.Thr127Arg
- rs1191790453
- ClinGen CA395984489
- ClinVar RCV001761291
- ClinVar RCV001868542
- Uncertain significance
- Inborn genetic diseases; not provided; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- CADD 9.16
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)