E14K (p.Glu14Lys) variant of GRM5 (P41594)
E14K (p.Glu14Lys) 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 0.57 / 1. The record also includes population frequency data.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- NCI-TCGA Cosmic COSV5960
- cosmic curated COSV59605
- NCI-TCGA Cosmic COSV5961
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.44
- MetaLR 0.72
- MetaSVM 0.37
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)