A333V (p.Ala333Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A333V (p.Ala333Val) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Atrial septal defect 5; Dilated cardiomyopathy 1R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A333V (p.Ala333Val) variant details
- p.Ala333Val
- rs730880406
- ClinGen CA020032
- ClinVar RCV000157801
- ClinVar RCV001034914
- Conflicting interpretations
- not provided; Atrial septal defect 5; Dilated cardiomyopathy 1R
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- MetaLR 0.92
- MetaSVM 1.10
- CADD 30.00
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Atrial septal defect 5; Dilated cardiomyopathy 1R)
- EBI: Likely pathogenic (in CMH11)
- UniProt: Likely pathogenic (in CMH11)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)