C9Y (p.Cys9Tyr) variant of GATA6 (Transcription factor GATA-6)
C9Y (p.Cys9Tyr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- gnomAD 18-22171170-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.51
- CADD 24.20
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available