A17A (p.Ala17Ala) variant of GATA6 (Transcription factor GATA-6)
A17A (p.Ala17Ala) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- gnomAD 18-22171195-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 7.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available