P38P (p.Pro38Pro) variant of GATA6 (Transcription factor GATA-6)
P38P (p.Pro38Pro) in GATA6 (Transcription factor GATA-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- gnomAD 18-22171258-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available