A21V (p.Ala21Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A21V (p.Ala21Val) 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 0.78 / 1. The record also includes published literature and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1060502823
- ClinGen CA16614451
- ClinVar RCV000468585
- Ensembl rs1060502823
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.89
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.85
- EVE 0.30
- MutPred 0.83
- 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)