L426F (p.Leu426Phe) variant of SPAST (Spastin)
L426F (p.Leu426Phe) 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; Flexion contracture; Spastic diplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L426F (p.Leu426Phe) variant details
- p.Leu426Phe
- rs1060502227
- ClinGen CA346502047
- NCI-TCGA Cosmic COSV5951
- ClinVar RCV000626922
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4; Flexion contracture; Spastic diplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4; Flexion contracture; Spastic di)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic… (PMID 20214791)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)