Y2F (p.Tyr2Phe) variant of GATA4 (Transcription factor GATA-4)
Y2F (p.Tyr2Phe) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y2F (p.Tyr2Phe) variant details
- p.Tyr2Phe
- gnomAD 8-11708317-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available