G221R (p.Gly221Arg) variant of GATA4 (Transcription factor GATA-4)
G221R (p.Gly221Arg) 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 Testicular anomalies with or without congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature.
G221R (p.Gly221Arg) variant details
- p.Gly221Arg
- rs398122402
- ClinGen CA210836
- ClinVar RCV000074426
- UniProt VAR 070670
- Pathogenic
- Testicular anomalies with or without congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- MutPred 0.82
- ClinVar: Pathogenic (Testicular anomalies with or without congenital heart disease)
- EBI: Pathogenic (in TACHD)
- UniProt: Pathogenic (in TACHD)
- Cited in: Loss-of-function mutation in GATA4 causes anomalies of human testicular development. (PMID 21220346)