M390I (p.Met390Ile) variant of SPAST (Spastin)
M390I (p.Met390Ile) 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 0.86 / 1. The record also includes published literature and structural context.
M390I (p.Met390Ile) variant details
- p.Met390Ile
- rs1131691971
- ClinGen CA346501341
- ClinVar RCV000494283
- ClinVar RCV001364718
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 0.80
- SIFT 0.01
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)