M52T (p.Met52Thr) variant of DRD3 (Dopamine receptor D3)
M52T (p.Met52Thr) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; DRD3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M52T (p.Met52Thr) variant details
- p.Met52Thr
- rs201882973
- ClinGen CA2550683
- ClinVar RCV003434763
- ClinVar RCV004364591
- Conflicting interpretations
- not provided; not specified; DRD3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.04
- CADD 18.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; DRD3-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00062)
- Structural context available