E69Q (p.Glu69Gln) variant of GRIA1 (Glutamate receptor 1)
E69Q (p.Glu69Gln) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- Ensembl rs1754183528
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.29
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the HGDP:MAKRANI population (allele frequency 0.038)
- Structural context available