A32D (p.Ala32Asp) variant of GATA4 (Transcription factor GATA-4)
A32D (p.Ala32Asp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- gnomAD 8-11708407-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.77
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available