Y233H (p.Tyr233His) variant of ADCY5 (Adenylate cyclase type 5)
Y233H (p.Tyr233His) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dyskinesia with orofacial involvement, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
Y233H (p.Tyr233His) variant details
- p.Tyr233His
- rs2107658582
- ClinGen CA354356933
- ClinVar RCV001789713
- Ensembl rs2107658582
- Pathogenic
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation. (PMID 31501304)
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)