G546R (p.Gly546Arg) variant of SPAST (Spastin)
G546R (p.Gly546Arg) 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 0.93 / 1. The record also includes published literature and structural context.
G546R (p.Gly546Arg) variant details
- p.Gly546Arg
- rs2148760843
- ClinGen CA346504192
- ClinVar RCV001918295
- Ensembl rs2148760843
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)