S120L (p.Ser120Leu) variant of GRM5 (P41594)
S120L (p.Ser120Leu) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
S120L (p.Ser120Leu) variant details
- p.Ser120Leu
- cosmic curated COSV10964
- gnomAD rs1286061108
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.40
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)