DRD3 p.Ile43=
c.129C>T · rs143953030 · VCV1013211
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.208%, afr)
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 -0.18 | GERP -3.5 |
| Overall | ||
| CADD | 8.421 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.208%
African / African-American · 156/75,034 alleles
Filtering AF
0.181%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.171%
Overall
0.0113%
183/1,613,706 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.208% | 481 |
| Admixed American | 0.0217% | 4,613 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,943 |
| South Asian | 0.0033% | 30,328 |
| European (non-Finnish) | 0.00017% | 589,901 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DRD3
- Protein
- p.Ile43=
- Coding
- c.129C>T
- MANE Select
- NM_000796
- dbSNP
- rs143953030
- Type
- single nucleotide variant
- Location
- chr3:114171864 (GRCh38)
- Gene constraint
- LOEUF 0.604 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 75.70 · 9 PDB
- Residue 43
- an α-helix
Similar variants
- 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.Gly9Ser Benign/Likely 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-ile43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown