G559D (p.Gly559Asp) variant of SPAST (Spastin)
G559D (p.Gly559Asp) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary spastic paraplegia; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G559D (p.Gly559Asp) variant details
- p.Gly559Asp
- rs864622179
- ClinGen CA349419
- ClinVar RCV000205236
- ClinVar RCV000432874
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- CADD 27.80
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia; Hereditary spastic)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Population evidence available
- Structural context available
- Cited in: Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. (PMID 11087788)
- Cited in: Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. (PMID 11843700)