Q64E (p.Gln64Glu) variant of BBS1 (BBSome complex member BBS1)
Q64E (p.Gln64Glu) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q64E (p.Gln64Glu) variant details
- p.Gln64Glu
- rs369843749
- ClinGen CA6123287
- ClinVar RCV000268188
- ClinVar RCV001243569
- Conflicting interpretations
- Inborn genetic diseases; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.10
- CADD 16.50
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bardet-Biedl syndrome; Bardet-Biedl syn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- 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)