T119M (p.Thr119Met) variant of DRD2 (D(2) dopamine receptor)
T119M (p.Thr119Met) in DRD2 (D(2) dopamine receptor) 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 and structural context.
T119M (p.Thr119Met) variant details
- p.Thr119Met
- rs1274176960
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60757
- TOPMed rs1274176960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.80
- MetaLR 0.72
- MetaSVM 0.73
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available