D26N (p.Asp26Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D26N (p.Asp26Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- rs727504399
- ClinGen CA019909
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV000154575
- Conflicting interpretations
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.74
- MetaLR 0.92
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)