Q9P (p.Gln9Pro) variant of ACTN2 (Alpha-actinin-2)
Q9P (p.Gln9Pro) 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; Dilated cardiomyopathy 1AA; Primary familial hypertrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Q9P (p.Gln9Pro) variant details
- p.Gln9Pro
- rs121434525
- ClinGen CA345358101
- ClinVar RCV002816606
- ClinVar RCV004603237
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary familial hypertrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary fa)
- EBI: Variant of uncertain significance (in CMD1AA)
- UniProt: Uncertain significance (in CMD1AA)
- 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)