D4E (p.Asp4Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D4E (p.Asp4Glu) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- rs768526036
- ClinGen CA391633489
- ClinVar RCV000648298
- ExAC rs768526036
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.48
- MetaLR 0.63
- MetaSVM -0.11
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)