G296S (p.Gly296Ser) variant of GATA4 (Transcription factor GATA-4)
G296S (p.Gly296Ser) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GATA4-related dilated cardiomyopathy; Transposition of the great arteries; Atrio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G296S (p.Gly296Ser) variant details
- p.Gly296Ser
- rs104894073
- ClinGen CA212661
- ClinVar RCV000009596
- ClinVar RCV001775066
- Pathogenic/Likely pathogenic
- GATA4-related dilated cardiomyopathy; Transposition of the great arteries; Atrio
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (GATA4-related dilated cardiomyopathy; Transposition of the great)
- EBI: Pathogenic (in ASD2)
- UniProt: Pathogenic (in ASD2)
- Structural context available
- Cited in: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PMID 12845333)
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)