L17V (p.Leu17Val) variant of GRIN2D (O15399)
L17V (p.Leu17Val) 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.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 19-48398441-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.04
- ESM-1b 0.10
- AlphaMissense 0.19
- CADD 22.50
- PolyPhen-2 0.38
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available