G7C (p.Gly7Cys) variant of GATA6 (Transcription factor GATA-6)
G7C (p.Gly7Cys) 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.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 18-22171163-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available