W29* (p.Trp29Ter) variant of SPG7 (Q9UQ90)
W29* (p.Trp29Ter) in SPG7 (Q9UQ90) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs1597597437
- ClinGen CA397415958
- ClinVar RCV000850308
- ClinVar RCV001391422
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 23.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)