R48Q (p.Arg48Gln) variant of BBS2 (BBSome complex member BBS2)
R48Q (p.Arg48Gln) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- rs775577429
- ClinGen CA8066102
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55325
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)