C142Y (p.Cys142Tyr) variant of BBS2 (BBSome complex member BBS2)
C142Y (p.Cys142Tyr) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C142Y (p.Cys142Tyr) variant details
- p.Cys142Tyr
- rs1348932407
- ClinGen CA395984398
- ClinVar RCV001943348
- ClinVar RCV005016826
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.87
- CADD 23.80
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Bardet-Biedl s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)