R11Q (p.Arg11Gln) variant of GRIN2D (O15399)
R11Q (p.Arg11Gln) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- gnomAD 19-48398424-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- ESM-1b 0.05
- AlphaMissense 0.18
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available