T34Q (p.Thr34Gln) variant of GATA6 (Transcription factor GATA-6)
T34Q (p.Thr34Gln) in GATA6 (Transcription factor GATA-6) is a protein-truncating 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.
T34Q (p.Thr34Gln) variant details
- p.Thr34Gln
- rs1274072137
- gnomAD 18-22171225-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available