P11Q (p.Pro11Gln) variant of GATA6 (Transcription factor GATA-6)
P11Q (p.Pro11Gln) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- gnomAD 18-22171176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available