R450G (p.Arg450Gly) variant of SPAST (Spastin)
R450G (p.Arg450Gly) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R450G (p.Arg450Gly) variant details
- p.Arg450Gly
- rs1553318223
- ClinGen CA346502217
- ClinVar RCV000644893
- Ensembl rs1553318223
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)