R30R (p.Arg30Arg) variant of GATA6 (Transcription factor GATA-6)
R30R (p.Arg30Arg) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- rs1423614383
- gnomAD 18-22171232-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available