R23L (p.Arg23Leu) variant of BBS2 (BBSome complex member BBS2)
R23L (p.Arg23Leu) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- rs1162842645
- ClinGen CA395988106
- ClinVar RCV001373231
- ClinVar RCV001831323
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.23
- AlphaMissense 0.84
- MetaLR 0.25
- MetaSVM -0.58
- CADD 24.60
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance (in BBS2)
- UniProt: Uncertain significance (in BBS2)
- 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)