D5Y (p.Asp5Tyr) variant of GATA6 (Transcription factor GATA-6)
D5Y (p.Asp5Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- gnomAD 18-22171157-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available