W228R (p.Trp228Arg) variant of GATA4 (Transcription factor GATA-4)
W228R (p.Trp228Arg) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
W228R (p.Trp228Arg) variant details
- p.Trp228Arg
- rs864321702
- ClinGen CA347951
- ClinVar RCV000203594
- Ensembl rs864321702
- Pathogenic
- Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- MutPred 0.94
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)