Q3E (p.Gln3Glu) variant of GATA4 (Transcription factor GATA-4)
Q3E (p.Gln3Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- rs1446210727
- ClinGen CA370308415
- ClinVar RCV003436736
- ClinVar RCV005100061
- Uncertain significance
- Atrioventricular septal defect 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.83
- MetaLR 0.96
- MetaSVM 1.09
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Atrioventricular septal defect 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available