D4H (p.Asp4His) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D4H (p.Asp4His) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D4H (p.Asp4His) variant details
- p.Asp4His
- rs730880408
- ClinGen CA019643
- ClinVar RCV000157803
- ClinVar RCV000821482
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.61
- MetaLR 0.85
- MetaSVM 0.77
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)