P27L (p.Pro27Leu) variant of GRIN2D (O15399)
P27L (p.Pro27Leu) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 19-48398472-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available