L18P (p.Leu18Pro) variant of GRIN2D (O15399)
L18P (p.Leu18Pro) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 19-48398445-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- ESM-1b 0.12
- AlphaMissense 0.71
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available