R25G (p.Arg25Gly) variant of GATA6 (Transcription factor GATA-6)
R25G (p.Arg25Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 18-22171217-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available