G16V (p.Gly16Val) variant of DRD3 (Dopamine receptor D3)
G16V (p.Gly16Val) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- ExAC rs769889675
- TOPMed rs769889675
- gnomAD rs769889675
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.17
- MetaSVM -0.96
- CADD 17.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available