A726T (p.Ala726Thr) variant of ADCY5 (Adenylate cyclase type 5)
A726T (p.Ala726Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
A726T (p.Ala726Thr) variant details
- p.Ala726Thr
- rs796065306
- ClinGen CA342901
- ClinVar RCV000030679
- ClinVar RCV000484892
- Pathogenic
- not provided; Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (not provided; Dyskinesia with orofacial involvement, autosomal d)
- EBI: Pathogenic (in DSKOD)
- UniProt: Pathogenic (in DSKOD)
- Structural context available
- Cited in: Familial essential ("benign") chorea. (PMID 1003446)
- Cited in: Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. (PMID 11310626)