A2T (p.Ala2Thr) variant of GATA6 (Transcription factor GATA-6)
A2T (p.Ala2Thr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 18-22171148-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.49
- CADD 27.00
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available