T128I (p.Thr128Ile) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T128I (p.Thr128Ile) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Atrial septal defect 5; Dilated cardiomyopathy 1R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
T128I (p.Thr128Ile) variant details
- p.Thr128Ile
- rs727504308
- ClinGen CA019768
- ClinVar RCV000154361
- ClinVar RCV001723721
- Likely pathogenic
- Cardiovascular phenotype; Atrial septal defect 5; Dilated cardiomyopathy 1R
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.55
- MetaLR 0.94
- MetaSVM 0.98
- PolyPhen-2 0.25
- EVE 0.40
- MutPred 0.70
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Atrial septal defect 5; Dilated cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)