G417E (p.Gly417Glu) variant of SPAST (Spastin)
G417E (p.Gly417Glu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G417E (p.Gly417Glu) variant details
- p.Gly417Glu
- rs1553318161
- ClinGen CA346501834
- ClinVar RCV001213726
- ClinVar RCV001819904
- Pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.78
- ClinVar: Pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)