Q58E (p.Gln58Glu) variant of GRIA1 (Glutamate receptor 1)
Q58E (p.Gln58Glu) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- TOPMed rs960833805
- gnomAD rs960833805
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- MetaLR 0.08
- MetaSVM -1.13
- CADD 19.10
- PolyPhen-2 0.09
- SIFT 0.82
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available