E38Q (p.Glu38Gln) variant of GRIA1 (Glutamate receptor 1)
E38Q (p.Glu38Gln) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- ExAC rs761521056
- gnomAD rs761521056
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -1.03
- CADD 25.60
- PolyPhen-2 0.68
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.015)
- Structural context available