R97C (p.Arg97Cys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R97C (p.Arg97Cys) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R97C (p.Arg97Cys) variant details
- p.Arg97Cys
- rs759495229
- ClinGen CA041519
- ClinVar RCV002040431
- UniProt VAR 045925
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Pathogenic (in CMH11)
- UniProt: Pathogenic (in CMH11)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Shared genetic causes of cardiac hypertrophy in children and adults. (PMID 18403758)
- Cited in: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PMID 10330430)