P27T (p.Pro27Thr) variant of SPAST (Spastin)
P27T (p.Pro27Thr) in SPAST (Spastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4. The record also includes structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- TOPMed rs1325448402
- gnomAD rs1325448402
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- UniProt: Uncertain significance
- Structural context available