G12V (p.Gly12Val) variant of GATA4 (Transcription factor GATA-4)
G12V (p.Gly12Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 8-11708347-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.91
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available