A16A (p.Ala16Ala) variant of GATA6 (Transcription factor GATA-6)
A16A (p.Ala16Ala) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs764776127
- gnomAD 18-22171192-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 11.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00025)
- Structural context available
- Literature evidence available