E16K (p.Glu16Lys) variant of ACTN2 (Alpha-actinin-2)
E16K (p.Glu16Lys) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; Cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs775052416
- ClinGen CA1472697
- ClinVar RCV003081618
- ClinVar RCV004992485
- Conflicting interpretations
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; Cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- 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)