R48W (p.Arg48Trp) variant of BBS2 (BBSome complex member BBS2)
R48W (p.Arg48Trp) 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 2; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- rs1030249829
- ClinGen CA281485865
- cosmic curated COSV55328
- ClinVar RCV001277879
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.45
- CADD 27.20
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)