E74Q (p.Glu74Gln) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E74Q (p.Glu74Gln) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.79 / 1. The record also includes published literature and structural context.
E74Q (p.Glu74Gln) variant details
- p.Glu74Gln
- rs1352413131
- ClinGen CA391631891
- ClinVar RCV003801817
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.79
- EVE 0.31
- MutPred 0.92
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)