P52L (p.Pro52Leu) variant of GRIA1 (Glutamate receptor 1)
P52L (p.Pro52Leu) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 5-153494000-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.27
- MetaLR 0.60
- MetaSVM 0.27
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available