G12W (p.Gly12Trp) variant of GATA4 (Transcription factor GATA-4)
G12W (p.Gly12Trp) 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 Cardiovascular phenotype; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- rs750597721
- ClinGen CA370308550
- ClinVar RCV003073610
- ClinVar RCV006342739
- Uncertain significance
- Cardiovascular phenotype; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrioventricular septal defect 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available