E122G (p.Glu122Gly) variant of GRM5 (P41594)
E122G (p.Glu122Gly) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- 1000Genomes rs200319380
- ExAC rs200319380
- TOPMed rs200319380
- gnomAD rs200319380
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.49
- MetaLR 0.66
- MetaSVM 0.24
- CADD 24.70
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the 1KG:ESN population (allele frequency 0.0049)