D1015E (p.Asp1015Glu) variant of ADCY5 (Adenylate cyclase type 5)
D1015E (p.Asp1015Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
D1015E (p.Asp1015Glu) variant details
- p.Asp1015Glu
- rs1007363034
- ClinGen CA354224040
- ClinVar RCV001789712
- TOPMed rs1007363034
- Likely pathogenic
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.50
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report… (PMID 27931826)
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)