A29V (p.Ala29Val) variant of GATA6 (Transcription factor GATA-6)
A29V (p.Ala29Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 18-22171230-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.27
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available