W8C (p.Trp8Cys) variant of GATA6 (Transcription factor GATA-6)
W8C (p.Trp8Cys) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- gnomAD 18-22171168-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available