L85P (p.Leu85Pro) variant of SPTBN2 (O15020)
L85P (p.Leu85Pro) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive spinocerebellar ataxia 14.
L85P (p.Leu85Pro) variant details
- p.Leu85Pro
- rs2496574851
- ClinGen CA381484241
- ClinVar RCV003338158
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 14
- Missense
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance