N2K (p.Asn2Lys) variant of ACTN2 (Alpha-actinin-2)
N2K (p.Asn2Lys) 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; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- rs755508640
- ClinGen CA1472692
- ClinVar RCV001043519
- ClinVar RCV005306234
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00059)
- 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)