Q22R (p.Gln22Arg) variant of ACTN2 (Alpha-actinin-2)
Q22R (p.Gln22Arg) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- rs1057518609
- ClinGen CA345358259
- ClinVar RCV003057525
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.30
- AlphaMissense 0.43
- MetaLR 0.28
- MetaSVM -0.46
- CADD 24.20
- PolyPhen-2 0.85
- 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 3e-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)