P13L (p.Pro13Leu) variant of GRIN2D (O15399)
P13L (p.Pro13Leu) 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.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD 19-48398430-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 27.50
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available