L426V (p.Leu426Val) variant of SPAST (Spastin)
L426V (p.Leu426Val) 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 0.89 / 1. The record also includes published literature and structural context.
L426V (p.Leu426Val) variant details
- p.Leu426Val
- rs1060502227
- ClinGen CA16610830
- NCI-TCGA Cosmic COSV5951
- cosmic curated COSV59514
- Pathogenic
- Hereditary spastic paraplegia 4; not provided
- 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 (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. (PMID 10699187)
- Cited in: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. (PMID 11809724)