R2H (p.Arg2His) variant of GRIN2D (O15399)
R2H (p.Arg2His) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- gnomAD 19-48398397-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 24.50
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available