Q3L (p.Gln3Leu) variant of GATA4 (Transcription factor GATA-4)
Q3L (p.Gln3Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q3L (p.Gln3Leu) variant details
- p.Gln3Leu
- gnomAD 8-11708320-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.91
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available