A119T (p.Ala119Thr) variant of ACTN2 (Alpha-actinin-2)
A119T (p.Ala119Thr) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ACTN2-related disorder; Cardiovascular phenotype; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- rs727502886
- ClinGen CA199276
- ClinVar RCV000150148
- ClinVar RCV000169904
- Pathogenic/Likely pathogenic
- ACTN2-related disorder; Cardiovascular phenotype; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ACTN2-related disorder; Cardiovascular phenotype; Primary dilate)
- EBI: Pathogenic (in CMH23 and CMD1AA)
- UniProt: Pathogenic (in CMH23 and CMD1AA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. (PMID 17097056)
- Cited in: Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. (PMID 20022194)