V17L (p.Val17Leu) variant of GRIA1 (Glutamate receptor 1)
V17L (p.Val17Leu) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- Ensembl rs1029712267
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.99
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available