E54D (p.Glu54Asp) variant of GRM5 (P41594)
E54D (p.Glu54Asp) 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 0.50 / 1. The record also includes population frequency data.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs1439046675
- NCI-TCGA Cosmic COSV5963
- cosmic curated COSV59637
- gnomAD rs1439046675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.61
- MetaLR 0.64
- MetaSVM 0.06
- CADD 20.10
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)