E19Q (p.Glu19Gln) variant of GATA4 (Transcription factor GATA-4)
E19Q (p.Glu19Gln) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- gnomAD rs1139240
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.55
- MetaLR 0.93
- MetaSVM 1.02
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available