E2D (p.Glu2Asp) variant of STK11 (Q15831)
E2D (p.Glu2Asp) in STK11 (Q15831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 19-1206919-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.08
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.06
- CADD 5.49
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available