A409T (p.Ala409Thr) variant of SPAST (Spastin)
A409T (p.Ala409Thr) 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 0.75 / 1. The record also includes published literature and structural context.
A409T (p.Ala409Thr) variant details
- p.Ala409Thr
- rs1064793273
- ClinGen CA16617528
- ClinVar RCV000481977
- ClinVar RCV002525773
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. (PMID 20932283)
- Cited in: Novel and recurrent spastin mutations in a large series of SPG4 Italian families. (PMID 22960362)