V56L (p.Val56Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V56L (p.Val56Leu) 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 Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- rs944740404
- ClinGen CA391632137
- ClinVar RCV001863893
- TOPMed rs944740404
- Uncertain significance
- Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.81
- MetaLR 0.93
- MetaSVM 0.99
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R; Atrial septal defect 5; 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)