E101V (p.Glu101Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E101V (p.Glu101Val) 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 0.87 / 1. The record also includes published literature and structural context.
E101V (p.Glu101Val) variant details
- p.Glu101Val
- rs1891748027
- ClinGen CA391631535
- ClinVar RCV001044723
- Ensembl rs1891748027
- Uncertain significance
- Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.55
- EVE 0.68
- MutPred 0.79
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic)
- EBI: Variant of uncertain significance (in CMH11)
- UniProt: Uncertain significance (in CMH11)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)