P7H (p.Pro7His) variant of GRIN2D (O15399)
P7H (p.Pro7His) 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.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 19-48398412-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.10
- ESM-1b 0.64
- AlphaMissense 0.16
- CADD 26.30
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available