R64K (p.Arg64Lys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R64K (p.Arg64Lys) 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 Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic cardiomyopathy 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R64K (p.Arg64Lys) variant details
- p.Arg64Lys
- rs869025353
- ClinGen CA351904
- ClinVar RCV000208267
- ClinVar RCV002295289
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic cardiomyopathy 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.69
- PolyPhen-2 0.05
- EVE 0.38
- MutPred 0.69
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 5; Hypertrophic c)
- 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)