E19K (p.Glu19Lys) variant of GATA4 (Transcription factor GATA-4)
E19K (p.Glu19Lys) 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 Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1139240
- ClinGen CA370308657
- ClinVar RCV002025031
- gnomAD rs1139240
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.69
- MetaLR 0.93
- MetaSVM 0.98
- CADD 23.40
- PolyPhen-2 0.76
- SIFT 0.03
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available