D20D (p.Asp20Asp) variant of GATA6 (Transcription factor GATA-6)
D20D (p.Asp20Asp) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D20D (p.Asp20Asp) variant details
- p.Asp20Asp
- gnomAD 18-22171204-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 12.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available