D15N (p.Asp15Asn) variant of ACTN2 (Alpha-actinin-2)
D15N (p.Asp15Asn) 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 Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Dilated. 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.
D15N (p.Asp15Asn) variant details
- p.Asp15Asn
- rs1242103284
- ClinGen CA345358177
- cosmic curated COSV63975
- ClinVar RCV003379893
- Conflicting interpretations
- Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.13
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Primary familial hypertrophic cardiomy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)