R2L (p.Arg2Leu) variant of GRIN2D (O15399)
R2L (p.Arg2Leu) 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.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- gnomAD 19-48398397-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available