L117V (p.Leu117Val) variant of GRM5 (P41594)
L117V (p.Leu117Val) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
L117V (p.Leu117Val) variant details
- p.Leu117Val
- TOPMed rs1278561727
- gnomAD rs1278561727
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.63
- MetaLR 0.68
- MetaSVM 0.29
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available