R498S (p.Arg498Ser) variant of SPAST (Spastin)
R498S (p.Arg498Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R498S (p.Arg498Ser) variant details
- p.Arg498Ser
- rs1553319075
- ClinGen CA346502816
- ClinVar RCV000644884
- Ensembl rs1553319075
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.85
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)