D58H (p.Asp58His) variant of BBS1 (BBSome complex member BBS1)
D58H (p.Asp58His) 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 Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D58H (p.Asp58His) variant details
- p.Asp58His
- rs776917681
- ClinGen CA6123283
- ClinVar RCV003941641
- ClinVar RCV005051418
- Uncertain significance
- Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)