L3M (p.Leu3Met) variant of GATA6 (Transcription factor GATA-6)
L3M (p.Leu3Met) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 18-22171151-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.36
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available