T144M (p.Thr144Met) variant of DRD2 (D(2) dopamine receptor)
T144M (p.Thr144Met) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T144M (p.Thr144Met) variant details
- p.Thr144Met
- rs1007776137
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60754
- TOPMed rs1007776137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.60
- MetaLR 0.28
- MetaSVM -0.53
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available