P28P (p.Pro28Pro) variant of GATA6 (Transcription factor GATA-6)
P28P (p.Pro28Pro) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- gnomAD 18-22171228-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available