E34Q (p.Glu34Gln) variant of ADCY5 (Adenylate cyclase type 5)
E34Q (p.Glu34Gln) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskinesia with orofacial involvement, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs1559883468
- ClinGen CA354358917
- ClinVar RCV000714656
- Ensembl rs1559883468
- Uncertain significance
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.19
- MetaLR 0.42
- MetaSVM -0.10
- PolyPhen-2 0.99
- SIFT 0.04
- MutPred 0.08
- ClinVar: Uncertain significance (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)