W37* (p.Trp37Ter) variant of BBS4 (BBSome complex member BBS4)
W37* (p.Trp37Ter) in BBS4 (BBSome complex member BBS4) 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 0.86 / 1. The record also includes population frequency data and structural context.
W37* (p.Trp37Ter) variant details
- p.Trp37Ter
- rs370049399
- ClinGen CA272633130
- ClinVar RCV003911439
- ESP rs370049399
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available