R23P (p.Arg23Pro) variant of BBS2 (BBSome complex member BBS2)
R23P (p.Arg23Pro) 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 not specified; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- rs1162842645
- ClinGen CA395988105
- ClinVar RCV001221796
- ClinVar RCV005432620
- Uncertain significance
- not specified; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.84
- MetaLR 0.25
- MetaSVM -0.58
- SIFT 0.01
- MutPred 0.83
- ClinVar: Uncertain significance (not specified; Bardet-Biedl syndrome)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Structural context available
- Cited in: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (PMID 15666242)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)