A17V (p.Ala17Val) variant of GATA4 (Transcription factor GATA-4)
A17V (p.Ala17Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 8-11708362-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available