L59V (p.Leu59Val) variant of BBS1 (BBSome complex member BBS1)
L59V (p.Leu59Val) in BBS1 (BBSome complex member BBS1) 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 1; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L59V (p.Leu59Val) variant details
- p.Leu59Val
- rs113822005
- ClinGen CA6123284
- ClinVar RCV001212839
- ClinVar RCV001819901
- Uncertain significance
- not specified; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- 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)