L22M (p.Leu22Met) variant of GRIN2D (O15399)
L22M (p.Leu22Met) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 19-48398456-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available