DRD4 p.Pro264=
c.792C>A · VCV4872225
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0184%, amr)
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 -1.5 | GERP -2 |
| Overall | ||
| CADD | 4.577 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0184%
Admixed American · 4/21,752 alleles
Filtering AF
0.00628%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00446%
Overall
0.0058%
69/1,189,476 alleles · ultra-rare
exomes 59/1,047,556 · genomes 10/141,920 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0184% | 5,438 |
| European (non-Finnish) | 0.00627% | 15,939 |
| South Asian | 0.00624% | 16,032 |
| Remaining individualsnot grpmax-eligible | 0.00459% | 21,781 |
| African / African-American | 0.00169% | 59,004 |
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.Pro264=
- Coding
- c.792C>A
- MANE Select
- NM_000797
- Type
- single nucleotide variant
- Location
- chr11:640041 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.06 · 2 PDB
- Residue 264
- the 'disordered' region; 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.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
- DRD4 p.Val398= 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-pro264 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown