E124K (p.Glu124Lys) variant of GRM5 (P41594)
E124K (p.Glu124Lys) in GRM5 (P41594) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- NCI-TCGA Cosmic COSV5960
- cosmic curated COSV59603
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.58
- MetaLR 0.75
- MetaSVM 0.50
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)