E69G (p.Glu69Gly) variant of GRIA1 (Glutamate receptor 1)
E69G (p.Glu69Gly) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- Ensembl rs1405946594
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.34
- MetaLR 0.38
- MetaSVM -0.30
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available