K9R (p.Lys9Arg) variant of SPAST (Spastin)
K9R (p.Lys9Arg) 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. The record also includes published literature and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- rs2465679456
- ClinGen CA346601216
- ClinVar RCV003112608
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- 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)