I39S (p.Ile39Ser) variant of GATA6 (Transcription factor GATA-6)
I39S (p.Ile39Ser) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I39S (p.Ile39Ser) variant details
- p.Ile39Ser
- rs1313230835
- gnomAD 18-22171253-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available