C9F (p.Cys9Phe) variant of GATA6 (Transcription factor GATA-6)
C9F (p.Cys9Phe) 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.
C9F (p.Cys9Phe) variant details
- p.Cys9Phe
- gnomAD 18-22171170-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.51
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available