E18A (p.Glu18Ala) variant of ACTN2 (Alpha-actinin-2)
E18A (p.Glu18Ala) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
E18A (p.Glu18Ala) variant details
- p.Glu18Ala
- rs1237522987
- ClinGen CA345358223
- ClinVar RCV001364947
- TOPMed rs1237522987
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.72
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.18
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)