L73M (p.Leu73Met) variant of GRM5 (P41594)
L73M (p.Leu73Met) 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 0.35 / 1. The record also includes population frequency data.
L73M (p.Leu73Met) variant details
- p.Leu73Met
- cosmic curated COSV59619
- ExAC rs200015333
- TOPMed rs200015333
- gnomAD rs200015333
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.28
- MetaLR 0.32
- MetaSVM -0.55
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)