V45A (p.Val45Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V45A (p.Val45Ala) 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 Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs1555418924
- ClinGen CA391632289
- ClinVar RCV000554419
- Ensembl rs1555418924
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.96
- MetaLR 0.70
- MetaSVM 0.26
- PolyPhen-2 0.00
- EVE 0.16
- MutPred 0.68
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; 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)