Y89C (p.Tyr89Cys) variant of BBS2 (BBSome complex member BBS2)
Y89C (p.Tyr89Cys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- rs560910758
- ClinGen CA8066088
- ClinVar RCV000874389
- ClinVar RCV001121839
- Conflicting interpretations
- not specified; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.33
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not specified; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)