W23* (p.Trp23Ter) variant of SPG7 (Q9UQ90)
W23* (p.Trp23Ter) in SPG7 (Q9UQ90) 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 0.50 / 1. The record also includes population frequency data and structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs1457238867
- ClinGen CA397415924
- ClinVar RCV003391406
- ClinVar RCV003482463
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available