L18V (p.Leu18Val) variant of GRIA2 (Glutamate receptor 2)
L18V (p.Leu18Val) in GRIA2 (Glutamate receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1296243918
- gnomAD 4-157221094-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.09
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available