G559R (p.Gly559Arg) variant of SPAST (Spastin)
G559R (p.Gly559Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
G559R (p.Gly559Arg) variant details
- p.Gly559Arg
- rs878854992
- ClinGen CA10581970
- ClinVar RCV000228683
- ClinVar RCV002472978
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Novel and recurrent spastin mutations in a large series of SPG4 Italian families. (PMID 22960362)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)