D441G (p.Asp441Gly) variant of SPAST (Spastin)
D441G (p.Asp441Gly) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D441G (p.Asp441Gly) variant details
- p.Asp441Gly
- rs121908512
- ClinGen CA253555
- ClinVar RCV000006018
- ClinVar RCV001849258
- Pathogenic
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant… (PMID 10493830)
- Cited in: Hereditary spastic paraplegia caused by mutations in the SPG4 gene. (PMID 11039577)