W23* (p.Trp23Ter) variant of BBS1 (BBSome complex member BBS1)
W23* (p.Trp23Ter) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs2495728074
- ClinVar RCV004573992
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)