R499C (p.Arg499Cys) variant of SPAST (Spastin)
R499C (p.Arg499Cys) 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 4; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R499C (p.Arg499Cys) variant details
- p.Arg499Cys
- rs121908511
- ClinGen CA253551
- NCI-TCGA Cosmic COSV5951
- cosmic curated COSV59512
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4; Hereditary spasti)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Population evidence available
- Structural context available
- Cited in: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. (PMID 10610178)
- Cited in: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. (PMID 10699187)