DRD4 p.Pro244=
c.732T>C · rs1259738013 · VCV775292
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00618%, 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 -0.63 | GERP -1.4, phastCons 0.002 |
| Overall | ||
| CADD | 4.273 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00618%
African / African-American · 3/48,542 alleles
Filtering AF
0.00164%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000854%
Overall
0.000545%
7/1,283,684 alleles · very rare
exomes 1/1,182,448 · genomes 6/101,236 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00618% | 16,181 |
| Remaining individualsnot grpmax-eligible | 0.00203% | 49,196 |
| European (non-Finnish) | 0.000293% | 341,632 |
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.Pro244=
- Coding
- c.732T>C
- MANE Select
- NM_000797
- dbSNP
- rs1259738013
- Type
- single nucleotide variant
- Location
- chr11:639981 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.06 · 2 PDB
- Residue 244
- the 'disordered' 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.Pro248= Likely benign ★★ same type
- DRD4 p.Val398= Likely benign ★★ same type
- DRD4 p.Val74= 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-pro244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown