G16C (p.Gly16Cys) variant of GATA4 (Transcription factor GATA-4)
G16C (p.Gly16Cys) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- 1000Genomes rs533331682
- TOPMed rs533331682
- gnomAD rs533331682
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.62
- MetaLR 0.89
- MetaSVM 0.51
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.20
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available