A60T (p.Ala60Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A60T (p.Ala60Thr) 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 Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs1555418912
- ClinGen CA391632082
- ClinVar RCV000648296
- ClinVar RCV000769473
- Uncertain significance
- Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.83
- EVE 0.64
- MutPred 0.85
- ClinVar: Uncertain significance (Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)