G6* (p.Gly6Ter) variant of SPAST (Spastin)
G6* (p.Gly6Ter) in SPAST (Spastin) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G6* (p.Gly6Ter) variant details
- p.Gly6Ter
- rs2465679369
- ClinGen CA346601200
- ClinVar RCV003633041
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)