G6D (p.Gly6Asp) variant of GATA6 (Transcription factor GATA-6)
G6D (p.Gly6Asp) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 18-22171161-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available