P32H (p.Pro32His) variant of GATA6 (Transcription factor GATA-6)
P32H (p.Pro32His) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P32H (p.Pro32His) variant details
- p.Pro32His
- gnomAD 18-22171239-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.34
- CADD 21.30
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available