N11S (p.Asn11Ser) variant of ACTN2 (Alpha-actinin-2)
N11S (p.Asn11Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs1449856891
- ClinGen CA345358117
- ClinVar RCV001062961
- ClinVar RCV004994228
- Uncertain significance
- Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype; Primary familial hypertrophic cardiomy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)