R28C (p.Arg28Cys) variant of ACTN2 (Alpha-actinin-2)
R28C (p.Arg28Cys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs730880040
- ClinGen CA346149
- ClinVar RCV000157095
- ClinVar RCV003764986
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)