L19M (p.Leu19Met) variant of GRIN2D (O15399)
L19M (p.Leu19Met) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 19-48398447-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available