A2A (p.Ala2Ala) variant of GATA6 (Transcription factor GATA-6)
A2A (p.Ala2Ala) in GATA6 (Transcription factor GATA-6) is a synonymous 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.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1228927661
- gnomAD 18-22171150-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 15.50
- Population evidence available
- Structural context available
- Literature evidence available