Y12C (p.Tyr12Cys) variant of ACTN2 (Alpha-actinin-2)
Y12C (p.Tyr12Cys) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- rs1665881725
- ClinGen CA345358131
- ClinVar RCV002770319
- ClinVar RCV003167746
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary familial hypertrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.56
- CADD 29.10
- PolyPhen-2 0.44
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary fa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)