Y28C (p.Tyr28Cys) variant of BBS1 (BBSome complex member BBS1)
Y28C (p.Tyr28Cys) 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; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs1263024783
- ClinGen CA381453674
- ClinVar RCV001987079
- ClinVar RCV005050507
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.77
- CADD 26.90
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Bardet-Biedl syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)