P38L (p.Pro38Leu) variant of GATA6 (Transcription factor GATA-6)
P38L (p.Pro38Leu) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD rs1342995094
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available