H28D (p.His28Asp) variant of GATA4 (Transcription factor GATA-4)
H28D (p.His28Asp) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
H28D (p.His28Asp) variant details
- p.His28Asp
- TOPMed rs1406275331
- gnomAD rs1406275331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.50
- PolyPhen-2 0.74
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available