M1029K (p.Met1029Lys) variant of ADCY5 (Adenylate cyclase type 5)
M1029K (p.Met1029Lys) 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 0.67 / 1. The record also includes published literature and structural context.
M1029K (p.Met1029Lys) variant details
- p.Met1029Lys
- rs864309484
- ClinGen CA347742
- ClinVar RCV000202493
- Ensembl rs864309484
- Pathogenic
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.33
- PolyPhen-2 0.55
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. (PMID 31731261)
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)