T34K (p.Thr34Lys) variant of GATA6 (Transcription factor GATA-6)
T34K (p.Thr34Lys) 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.
T34K (p.Thr34Lys) variant details
- p.Thr34Lys
- gnomAD 18-22171245-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available