W99* (p.Trp99Ter) variant of IFT172 (Q9UG01)
W99* (p.Trp99Ter) in IFT172 (Q9UG01) 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.
W99* (p.Trp99Ter) variant details
- p.Trp99Ter
- rs1668654133
- ClinGen CA346402206
- ClinVar RCV001195537
- Ensembl rs1668654133
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)