L17M (p.Leu17Met) variant of GRIN2D (O15399)
L17M (p.Leu17Met) in GRIN2D (O15399) 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.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 19-48398441-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 19.90
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available