N11H (p.Asn11His) variant of ACTN2 (Alpha-actinin-2)
N11H (p.Asn11His) 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 Dilated cardiomyopathy 1AA; Cardiovascular phenotype; Primary familial hypertrop. 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.
N11H (p.Asn11His) variant details
- p.Asn11His
- rs886046205
- ClinGen CA10610583
- ClinVar RCV000265212
- ClinVar RCV002446540
- Uncertain significance
- Dilated cardiomyopathy 1AA; Cardiovascular phenotype; Primary familial hypertrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Cardiovascular phenotype; Primary fa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- 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)