G22C (p.Gly22Cys) variant of GATA4 (Transcription factor GATA-4)
G22C (p.Gly22Cys) 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 0.73 / 1. The record also includes population frequency data and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- rs2486778757
- ClinGen CA370308703
- ClinVar RCV002598836
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.65
- MetaLR 0.92
- MetaSVM 0.96
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available