Q9R (p.Gln9Arg) variant of ACTN2 (Alpha-actinin-2)
Q9R (p.Gln9Arg) 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 Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-li. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- rs121434525
- ClinGen CA090885
- cosmic curated COSV63972
- ClinVar RCV000019977
- Conflicting interpretations
- Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-li
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.36
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.84
- CADD 22.90
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1AA; Myopathy, congenital, with structure)
- EBI: Pathogenic (in CMD1AA)
- UniProt: Pathogenic (in CMD1AA)
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. (PMID 14567970)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)