C9C (p.Cys9Cys) variant of GATA6 (Transcription factor GATA-6)
C9C (p.Cys9Cys) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C9C (p.Cys9Cys) variant details
- p.Cys9Cys
- rs1473236605
- gnomAD 18-22171171-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 14.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available