Y2H (p.Tyr2His) variant of GATA4 (Transcription factor GATA-4)
Y2H (p.Tyr2His) 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.
Y2H (p.Tyr2His) variant details
- p.Tyr2His
- gnomAD 8-11708316-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.88
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available