H28L (p.His28Leu) variant of GATA4 (Transcription factor GATA-4)
H28L (p.His28Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H28L (p.His28Leu) variant details
- p.His28Leu
- gnomAD 8-11708395-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.70
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available