K12E (p.Lys12Glu) variant of GATA6 (Transcription factor GATA-6)
K12E (p.Lys12Glu) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD 18-22171178-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.47
- CADD 27.00
- PolyPhen-2 0.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available