P35T (p.Pro35Thr) variant of GATA6 (Transcription factor GATA-6)
P35T (p.Pro35Thr) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- gnomAD 18-22171247-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.56
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available