S119F (p.Ser119Phe) variant of GRM5 (P41594)
S119F (p.Ser119Phe) in GRM5 (P41594) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
S119F (p.Ser119Phe) variant details
- p.Ser119Phe
- rs774109600
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- ExAC rs774109600
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.81
- MetaLR 0.78
- MetaSVM 0.57
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)