G12C (p.Gly12Cys) variant of GRIN2D (O15399)
G12C (p.Gly12Cys) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 19-48398426-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available