L17Q (p.Leu17Gln) variant of GRIN2D (O15399)
L17Q (p.Leu17Gln) 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.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD 19-48398442-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 25.50
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available