Q64H (p.Gln64His) variant of BBS1 (BBSome complex member BBS1)
Q64H (p.Gln64His) 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 Inborn genetic diseases; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q64H (p.Gln64His) variant details
- p.Gln64His
- rs2495736173
- ClinGen CA381455736
- ClinVar RCV004426039
- ClinVar RCV005051436
- Uncertain significance
- Inborn genetic diseases; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases; Bardet-Biedl syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)