R17C (p.Arg17Cys) variant of GRM5 (P41594)
R17C (p.Arg17Cys) 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 0.37 / 1. The record also includes population frequency data.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- NCI-TCGA Cosmic COSV5960
- cosmic curated COSV59607
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.25
- MetaLR 0.54
- MetaSVM -0.54
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)