A32V (p.Ala32Val) variant of GATA4 (Transcription factor GATA-4)
A32V (p.Ala32Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 8-11708407-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.60
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available