R30W (p.Arg30Trp) variant of GATA6 (Transcription factor GATA-6)
R30W (p.Arg30Trp) 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 and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- TOPMed rs1423614383
- gnomAD rs1423614383
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.42
- CADD 25.00
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available