I289T (p.Ile289Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I289T (p.Ile289Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.73 / 1. The record also includes published literature and structural context.
I289T (p.Ile289Thr) variant details
- p.Ile289Thr
- rs727504379
- ClinGen CA019967
- ClinVar RCV000154537
- ClinVar RCV000157806
- Pathogenic/Likely pathogenic
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.34
- EVE 0.23
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)