T34R (p.Thr34Arg) variant of GATA6 (Transcription factor GATA-6)
T34R (p.Thr34Arg) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- ExAC rs771857951
- gnomAD rs771857951
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available