T389A (p.Thr389Ala) variant of SPAST (Spastin)
T389A (p.Thr389Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
T389A (p.Thr389Ala) variant details
- p.Thr389Ala
- rs786204132
- ClinGen CA334274
- ClinVar RCV000168104
- Ensembl rs786204132
- Pathogenic
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (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)