T34A (p.Thr34Ala) variant of GATA6 (Transcription factor GATA-6)
T34A (p.Thr34Ala) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- gnomAD 18-22171244-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available