E23Q (p.Glu23Gln) variant of ACTN2 (Alpha-actinin-2)
E23Q (p.Glu23Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs1229509268
- ClinGen CA345358263
- ClinVar RCV003040061
- Ensembl rs1229509268
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.93
- SIFT 0.12
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)