R138C (p.Arg138Cys) variant of GRM5 (P41594)
R138C (p.Arg138Cys) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- cosmic curated COSV59593
- 1000Genomes rs538043568
- ExAC rs538043568
- gnomAD rs538043568
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.58
- MetaLR 0.69
- MetaSVM 0.31
- CADD 28.50
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)