L3P (p.Leu3Pro) variant of BBS2 (BBSome complex member BBS2)
L3P (p.Leu3Pro) 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; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- rs1964870972
- ClinGen CA395988342
- ClinVar RCV001324414
- ClinVar RCV002486299
- Uncertain significance
- Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.28
- MetaLR 0.56
- MetaSVM -0.07
- SIFT 0.02
- MutPred 0.42
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)