G6C (p.Gly6Cys) variant of GRIN2D (O15399)
G6C (p.Gly6Cys) 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.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 19-48398408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.16
- ESM-1b 0.68
- AlphaMissense 0.24
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available