G16E (p.Gly16Glu) variant of DRD3 (Dopamine receptor D3)
G16E (p.Gly16Glu) 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 0.26 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- rs769889675
- ClinGen CA2550712
- ClinVar RCV004377092
- ExAC rs769889675
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.17
- MetaSVM -0.95
- CADD 13.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available