V32L (p.Val32Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V32L (p.Val32Leu) 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 0.56 / 1. The record also includes published literature and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- rs1555419003
- ClinGen CA391633144
- ClinVar RCV002988724
- Uncertain significance
- Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.40
- MetaLR 0.69
- MetaSVM 0.31
- PolyPhen-2 0.02
- EVE 0.29
- MutPred 0.66
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic)
- 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)