V27M (p.Val27Met) variant of GRM5 (P41594)
V27M (p.Val27Met) in GRM5 (P41594) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
V27M (p.Val27Met) variant details
- p.Val27Met
- rs751918108
- ClinGen CA6220984
- ClinVar RCV004170848
- ExAC rs751918108
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.52
- MetaLR 0.87
- MetaSVM 0.78
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)