V366D (p.Val366Asp) variant of BBS1 (BBSome complex member BBS1)
V366D (p.Val366Asp) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V366D (p.Val366Asp) variant details
- p.Val366Asp
- rs2495780320
- ClinGen CA381462747
- ClinVar RCV003062412
- Pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.66
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.02
- CADD 24.90
- PolyPhen-2 0.49
- ClinVar: Pathogenic (Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)