E18D (p.Glu18Asp) variant of ACTN2 (Alpha-actinin-2)
E18D (p.Glu18Asp) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- ExAC rs768605809
- gnomAD rs768605809
- Likely benign
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.10
- CADD 16.40
- PolyPhen-2 0.90
- SIFT 1.00
- ClinVar: Likely benign (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- UniProt: Likely benign
- Population evidence available
- Structural context available