D53V (p.Asp53Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D53V (p.Asp53Val) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- rs1555418919
- ClinGen CA391632176
- ClinVar RCV000617708
- ClinVar RCV001764728
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.92
- PolyPhen-2 0.16
- EVE 0.44
- MutPred 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)