D20Y (p.Asp20Tyr) variant of GATA6 (Transcription factor GATA-6)
D20Y (p.Asp20Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- gnomAD 18-22171202-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- CADD 24.00
- PolyPhen-2 0.37
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available