T34P (p.Thr34Pro) variant of GATA6 (Transcription factor GATA-6)
T34P (p.Thr34Pro) 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.
T34P (p.Thr34Pro) variant details
- p.Thr34Pro
- gnomAD 18-22171244-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available