E38G (p.Glu38Gly) variant of GRIA1 (Glutamate receptor 1)
E38G (p.Glu38Gly) 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, published literature, and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- gnomAD 5-153493958-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.35
- MetaLR 0.15
- MetaSVM -0.90
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- Structural context available
- Literature evidence available