I39V (p.Ile39Val) variant of GATA6 (Transcription factor GATA-6)
I39V (p.Ile39Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- gnomAD 18-22171259-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available