R418Q (p.Arg418Gln) variant of ADCY5 (Adenylate cyclase type 5)
R418Q (p.Arg418Gln) 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 not provided; Dyskinesia with orofacial involvement, autosomal dominant; See cas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R418Q (p.Arg418Gln) variant details
- p.Arg418Gln
- rs864309515
- ClinGen CA347806
- ClinVar RCV000202572
- ClinVar RCV000494073
- Pathogenic
- not provided; Dyskinesia with orofacial involvement, autosomal dominant; See cas
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- MetaLR 0.72
- MetaSVM 0.60
- CADD 27.70
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Dyskinesia with orofacial involvement, autosomal d)
- EBI: Pathogenic (in DSKOD)
- UniProt: Pathogenic (in DSKOD)
- Population evidence available
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)