A28V (p.Ala28Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A28V (p.Ala28Val) 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 Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs397517072
- ClinGen CA019957
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV000043642
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.80
- MetaLR 0.80
- MetaSVM 0.86
- CADD 31.00
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)