Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.56 | GERP -3.8 |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DRD3
- Protein
- p.Gly9=
- Coding
- c.25=
- MANE Select
- NM_000796
- dbSNP
- rs6280
- Type
- single nucleotide variant
- Location
- chr3:114171968 (GRCh38)
- Gene constraint
- LOEUF 0.604 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 75.70 · 9 PDB
- Residue 9
- a UniProt-annotated variant site (in)
Similar variants
- DRD3 p.Gly9Ser Benign/Likely benign ★★ same residue
- DRD3 c.-105G>A Likely benign ★★ same type
- DRD3 c.-333G>A Benign ★★ same type
- DRD3 p.Ala17= Benign ★★ same type
- DRD3 p.Ala38Thr Likely benign ★★ same type
- DRD3 p.Gln240= Benign ★★ same type
- DRD3 p.Gln329= Benign ★★ same type
- DRD3 p.His349= Likely benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/drd3-p-gly9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown