A9D (p.Ala9Asp) variant of GATA4 (Transcription factor GATA-4)
A9D (p.Ala9Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD rs1434211242
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.83
- MetaLR 0.25
- MetaSVM -0.59
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available