I39P (p.Ile39Pro) variant of GATA6 (Transcription factor GATA-6)
I39P (p.Ile39Pro) in GATA6 (Transcription factor GATA-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I39P (p.Ile39Pro) variant details
- p.Ile39Pro
- gnomAD 18-22171253-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 27.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available