A14V (p.Ala14Val) variant of GRIN2D (O15399)
A14V (p.Ala14Val) 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.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 19-48398433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 24.20
- PolyPhen-2 0.68
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available