DRD4 p.Ile156=
c.468C>A · VCV3356919
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0232%, mid)
Conditions
1
DRD4-related disorder
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 -0.3 | GERP -3.1, phastCons 0.25 |
| Overall | ||
| CADD | 10.11 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0232%
Middle Eastern · 1/4,306 alleles
Filtering AF
0.00339%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00306%
Overall
0.00379%
57/1,503,244 alleles · ultra-rare
exomes 48/1,351,748 · genomes 9/151,496 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0232% | 4,306 |
| Remaining individualsnot grpmax-eligible | 0.00689% | 14,513 |
| European (non-Finnish) | 0.00441% | 22,672 |
| South Asian | 0.00246% | 40,675 |
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
- DRD4
- Protein
- p.Ile156=
- Coding
- c.468C>A
- MANE Select
- NM_000797
- Type
- single nucleotide variant
- Location
- chr11:639717 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.06 · 2 PDB
- Residue 156
- an α-helix
Disease context
DRD4-related disorder
Similar variants
- DRD4 p.Ala36Val Uncertain significance ★ ⚠ same condition
- DRD4 p.Cys372Tyr Uncertain significance ⚠ same condition
- DRD4 p.Pro246His Uncertain significance ⚠ same condition
- DRD4 c.285+7C>T Likely benign same condition
- DRD4 p.Ala228= Likely benign same condition
- DRD4 p.Ala78Thr Likely benign same condition
- DRD4 p.Ala84Thr Benign ⚠ same condition
- DRD4 p.Arg412Leu Likely benign same condition
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/drd4-p-ile156 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown