L20M (p.Leu20Met) variant of GRIN2D (O15399)
L20M (p.Leu20Met) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- gnomAD 19-48398450-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 17.90
- PolyPhen-2 0.04
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available