A6T (p.Ala6Thr) variant of GATA4 (Transcription factor GATA-4)
A6T (p.Ala6Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 8-11708328-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.58
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available