R759T (p.Arg759Thr) variant of ACTN2 (Alpha-actinin-2)
R759T (p.Arg759Thr) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
R759T (p.Arg759Thr) variant details
- p.Arg759Thr
- rs786204950
- ClinGen CA199273
- ClinVar RCV004819193
- Ensembl rs786204950
- Pathogenic
- Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompac
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.93
- MetaLR 0.52
- MetaSVM 0.10
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Cardiomyopathy, familial hypertrophic, 23, with or without ventr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. (PMID 17097056)