R128H (p.Arg128His) variant of GRM5 (P41594)
R128H (p.Arg128His) 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 0.62 / 1. The record also includes population frequency data.
R128H (p.Arg128His) variant details
- p.Arg128His
- rs557855706
- NCI-TCGA Cosmic COSV5962
- cosmic curated COSV59627
- 1000Genomes rs557855706
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.58
- MetaLR 0.56
- MetaSVM 0.02
- CADD 23.70
- PolyPhen-2 0.87
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)