E628G (p.Glu628Gly) variant of ACTN2 (Alpha-actinin-2)
E628G (p.Glu628Gly) 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 0.74 / 1. The record also includes published literature and structural context.
E628G (p.Glu628Gly) variant details
- p.Glu628Gly
- rs786204951
- ClinGen CA199275
- ClinVar RCV004819194
- UniProt VAR 071973
- Pathogenic
- Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompac
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.91
- MetaLR 0.65
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Cardiomyopathy, familial hypertrophic, 23, with or without ventr)
- EBI: Pathogenic (in CMH23)
- UniProt: Pathogenic (in CMH23)
- Structural context available
- Cited in: Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. (PMID 20022194)
- Cited in: Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a… (PMID 25173926)