M1L (p.Met1Leu) variant of WWOX (Q9NZC7)
M1L (p.Met1Leu) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2507125143
- ClinGen CA396841722
- ClinVar RCV002780125
- Pathogenic
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- ClinVar: Pathogenic (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available