R498G (p.Arg498Gly) variant of SPAST (Spastin)
R498G (p.Arg498Gly) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 4; not provided. 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.
R498G (p.Arg498Gly) variant details
- p.Arg498Gly
- rs1553318350
- ClinGen CA346502545
- ClinVar RCV001377877
- ClinVar RCV002265027
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Population evidence available
- Structural context available
- Cited in: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (PMID 20718791)
- Cited in: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. (PMID 20932283)