H11L (p.His11Leu) variant of GATA4 (Transcription factor GATA-4)
H11L (p.His11Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
H11L (p.His11Leu) variant details
- p.His11Leu
- gnomAD 8-11708344-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.79
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available