G64E (p.Gly64Glu) variant of GATA4 (Transcription factor GATA-4)
G64E (p.Gly64Glu) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- rs1249347695
- ClinGen CA370309119
- ClinVar RCV003824086
- TOPMed rs1249347695
- Likely pathogenic
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.63
- MetaLR 0.82
- MetaSVM 0.30
- CADD 14.70
- PolyPhen-2 0.56
- SIFT 1.00
- ClinVar: Likely pathogenic (Atrioventricular septal defect 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available