R418W (p.Arg418Trp) variant of ADCY5 (Adenylate cyclase type 5)
R418W (p.Arg418Trp) 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 Inborn genetic diseases; not provided; Dyskinesia with orofacial involvement, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R418W (p.Arg418Trp) variant details
- p.Arg418Trp
- rs864309483
- ClinGen CA347787
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10056
- Pathogenic
- Inborn genetic diseases; not provided; Dyskinesia with orofacial involvement, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Dyskinesia with orofacial)
- EBI: Pathogenic (in DSKOD)
- UniProt: Pathogenic (in DSKOD)
- Structural context available
- Cited in: Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. (PMID 24700542)
- Cited in: ADCY5 mutations are another cause of benign hereditary chorea. (PMID 26085604)