T34M (p.Thr34Met) variant of GATA6 (Transcription factor GATA-6)
T34M (p.Thr34Met) 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.
T34M (p.Thr34Met) variant details
- p.Thr34Met
- gnomAD 18-22171245-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available