R128C (p.Arg128Cys) variant of GRM5 (P41594)
R128C (p.Arg128Cys) 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 0.71 / 1. The record also includes population frequency data.
R128C (p.Arg128Cys) variant details
- p.Arg128Cys
- rs1409555487
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5960
- cosmic curated COSV59605
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.71
- MetaLR 0.63
- MetaSVM 0.21
- CADD 27.00
- PolyPhen-2 0.91
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)