M1V (p.Met1Val) variant of SPAST (Spastin)
M1V (p.Met1Val) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4; not provided. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2465679256
- ClinGen CA346601167
- ClinVar RCV003415541
- ClinVar RCV003484419
- Uncertain significance
- Hereditary spastic paraplegia 4; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)