E124Q (p.Glu124Gln) variant of GRM5 (P41594)
E124Q (p.Glu124Gln) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
E124Q (p.Glu124Gln) variant details
- p.Glu124Gln
- Ensembl rs1941666984
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.37
- MetaLR 0.73
- MetaSVM 0.25
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00025)