R460H (p.Arg460His) variant of SPAST (Spastin)
R460H (p.Arg460His) 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; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R460H (p.Arg460His) variant details
- p.Arg460His
- rs1553318241
- ClinGen CA346502290
- NCI-TCGA Cosmic COSV5951
- cosmic curated COSV59514
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4; not provided; Hereditary spasti)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)