G247D (p.Gly247Asp) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G247D (p.Gly247Asp) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G247D (p.Gly247Asp) variant details
- p.Gly247Asp
- rs1566967399
- ClinGen CA391629970
- ClinVar RCV000770514
- ClinVar RCV001216367
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 0.99
- EVE 0.55
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)