C22W (p.Cys22Trp) variant of GRIN1 (Q05586)
C22W (p.Cys22Trp) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C22W (p.Cys22Trp) variant details
- p.Cys22Trp
- gnomAD 9-137139552-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available