R412L (p.Arg412Leu) variant of ADCY5 (Adenylate cyclase type 5)
R412L (p.Arg412Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dyskinesia with orofacial involvement, autosomal dominant. The record also includes published literature and structural context.
R412L (p.Arg412Leu) variant details
- p.Arg412Leu
- rs2472988765
- ClinGen CA354222587
- ClinVar RCV002466312
- Likely pathogenic
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)