W8L (p.Trp8Leu) variant of GATA6 (Transcription factor GATA-6)
W8L (p.Trp8Leu) 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.
W8L (p.Trp8Leu) variant details
- p.Trp8Leu
- gnomAD 18-22171167-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available