R8C (p.Arg8Cys) variant of GRIN2D (O15399)
R8C (p.Arg8Cys) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- gnomAD 19-48398414-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- ESM-1b 0.07
- AlphaMissense 0.35
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available