G277V (p.Gly277Val) variant of BBS4 (BBSome complex member BBS4)
G277V (p.Gly277Val) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G277V (p.Gly277Val) variant details
- p.Gly277Val
- rs749017489
- ClinGen CA7646802
- ClinVar RCV000462368
- ExAC rs749017489
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- MetaLR 0.78
- MetaSVM 0.75
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)