W75* (p.Trp75Ter) variant of ACAN (Aggrecan core protein)
W75* (p.Trp75Ter) in ACAN (Aggrecan core protein) is a protein-truncating change. 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.
W75* (p.Trp75Ter) variant details
- p.Trp75Ter
- TOPMed rs1168641758
- gnomAD rs1168641758
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 44.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available