Q22L (p.Gln22Leu) variant of ACTN2 (Alpha-actinin-2)
Q22L (p.Gln22Leu) 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 Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
Q22L (p.Gln22Leu) variant details
- p.Gln22Leu
- rs1057518609
- ClinGen CA16042379
- ClinVar RCV000413316
- ClinVar RCV002524660
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.43
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)