Q58K (p.Gln58Lys) variant of GRIA1 (Glutamate receptor 1)
Q58K (p.Gln58Lys) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- TOPMed rs960833805
- gnomAD rs960833805
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.27
- MetaLR 0.09
- MetaSVM -1.11
- CADD 20.80
- PolyPhen-2 0.09
- SIFT 0.36
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available