A19A (p.Ala19Ala) variant of GATA6 (Transcription factor GATA-6)
A19A (p.Ala19Ala) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs764489452
- gnomAD 18-22171201-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available