C122Y (p.Cys122Tyr) variant of DRD3 (Dopamine receptor D3)
C122Y (p.Cys122Tyr) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar, EBI, 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 0.84 / 1. The record also includes population frequency data and structural context.
C122Y (p.Cys122Tyr) variant details
- p.Cys122Tyr
- rs1369997674
- ClinGen CA354323214
- ClinVar RCV004377091
- TOPMed rs1369997674
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.83
- CADD 26.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available