A9T (p.Ala9Thr) variant of GATA4 (Transcription factor GATA-4)
A9T (p.Ala9Thr) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tetralogy of Fallot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs864321699
- ClinGen CA347953
- ClinVar RCV000203597
- ClinVar RCV002470814
- Uncertain significance
- Tetralogy of Fallot
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.46
- MetaLR 0.83
- MetaSVM 0.71
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.60
- ClinVar: Uncertain significance (Tetralogy of Fallot)
- EBI: Pathogenic (in TOF)
- UniProt: Pathogenic (in TOF)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)
- Cited in: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of… (PMID 30121239)