A20T (p.Ala20Thr) variant of GATA4 (Transcription factor GATA-4)
A20T (p.Ala20Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD 8-11708370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.36
- CADD 8.56
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available