C2Y (p.Cys2Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
C2Y (p.Cys2Tyr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C2Y (p.Cys2Tyr) variant details
- p.Cys2Tyr
- rs1469206760
- ClinGen CA391633527
- ClinVar RCV001207253
- ClinVar RCV003532894
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- MetaLR 0.59
- MetaSVM 0.44
- CADD 25.00
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)