DRD4 p.Cys306=
c.918C>T · VCV3777968
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0254%, 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 -3.6 | GERP -2.1 |
| Overall | ||
| CADD | 5.872 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0254%
African / African-American · 18/70,800 alleles
Filtering AF
0.0163%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0135%
Overall
0.00243%
37/1,520,884 alleles · ultra-rare
exomes 33/1,370,192 · genomes 4/150,692 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0254% | 3,933 |
| Middle Eastern | 0.0231% | 4,322 |
| Remaining individualsnot grpmax-eligible | 0.00507% | 19,730 |
| South Asian | 0.00361% | 27,719 |
| European (non-Finnish) | 0.00105% | 95,000 |
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.Cys306=
- Coding
- c.918C>T
- MANE Select
- NM_000797
- Type
- single nucleotide variant
- Location
- chr11:640167 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.06 · 2 PDB
- Residue 306
- the '4 x 16 aa approximate tandem repeats of [pa]-a-p-g-l-p-[pqr]-[dg]-p-c-g-p-d-c-a-p' region
Similar variants
- DRD4 p.Cys306Phe Uncertain significance ★ ⚠ same residue
- DRD4 p.Asn309Asp Uncertain significance ★★ ⚠ same type
- DRD4 p.Ser308Pro Uncertain significance ★★ ⚠ same type
- DRD4 p.Ala335Gly Benign ★★ same type
- DRD4 p.Gly11Arg Benign ★★ same type
- DRD4 p.Leu83= Likely benign ★★ same type
- DRD4 p.Pro244= Likely benign ★★ same type
- DRD4 p.Pro248= 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/drd4-p-cys306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown