G57S (p.Gly57Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G57S (p.Gly57Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- TOPMed rs1891752230
- gnomAD rs1891752230
- Uncertain significance
- Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- MetaLR 0.94
- MetaSVM 1.04
- CADD 24.50
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available