A19V (p.Ala19Val) variant of GATA6 (Transcription factor GATA-6)
A19V (p.Ala19Val) 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, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 18-22171200-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available