P13H (p.Pro13His) variant of GRIN2D (O15399)
P13H (p.Pro13His) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P13H (p.Pro13His) variant details
- p.Pro13His
- gnomAD 19-48398430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.07
- ESM-1b 0.85
- AlphaMissense 0.25
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available