I4M (p.Ile4Met) variant of ACTN2 (Alpha-actinin-2)
I4M (p.Ile4Met) 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 Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs781720338
- ClinGen CA1472693
- ClinVar RCV001345001
- ClinVar RCV005792095
- Uncertain significance
- Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.25
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Cardiovascular phenotype; Primary familial hypertrophic cardiomy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00055)
- 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)