P38del (p.Pro38del) variant of GATA6 (Transcription factor GATA-6)
P38del (p.Pro38del) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P38del (p.Pro38del) variant details
- gnomAD 18-22171253-TCCC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available