G7R (p.Gly7Arg) variant of GATA6 (Transcription factor GATA-6)
G7R (p.Gly7Arg) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- 1000Genomes rs1453414298
- gnomAD rs1453414298
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available