T32R (p.Thr32Arg) variant of SETX (Helicase senataxin)
T32R (p.Thr32Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The record also includes structural context.
T32R (p.Thr32Arg) variant details
- p.Thr32Arg
- TOPMed rs1332915918
- Uncertain significance
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- ClinVar: Uncertain significance (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- UniProt: Uncertain significance
- Structural context available