G18D (p.Gly18Asp) variant of GRIA1 (Glutamate receptor 1)
G18D (p.Gly18Asp) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- ExAC rs776558930
- gnomAD rs776558930
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- MetaLR 0.08
- MetaSVM -1.09
- CADD 20.80
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available