H28Y (p.His28Tyr) variant of GATA4 (Transcription factor GATA-4)
H28Y (p.His28Tyr) 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 0.86 / 1. The record also includes population frequency data and structural context.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- rs1406275331
- ClinGen CA370308797
- ClinVar RCV003037278
- TOPMed rs1406275331
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.00
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available