Is DRD4 p.Phe201= (c.603C>T) pathogenic?

DRD4 p.Phe201= (c.603C>T) is classified Likely benign in DRD4 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-07-11). Rare (popmax 0.118%, eas); Associated with DRD4-related disorder.

What condition is associated with DRD4 p.Phe201= (c.603C>T)?

DRD4 p.Phe201= (c.603C>T) is associated with DRD4-related disorder (ClinVar).

How common is DRD4 p.Phe201= (c.603C>T) in the general population?

DRD4 p.Phe201= (c.603C>T) is rare (popmax 0.118%, eas) (gnomAD).

DRD4 p.Phe201=

c.603C>T · rs199869206 · VCV3049977

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.118%, eas)

Conditions

DRD4-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.47	GERP 0.73, phastCons 0.89
Overall
CADD	12.15	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.118% East Asian · 52/44,104 alleles

Filtering AF 0.0923% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0832%

Overall 0.0137% 217/1,585,778 alleles · rare exomes 180/1,434,756 · genomes 37/151,022 · joint denominator

Ancestry group	Frequency	1 in
Remaining individualsnot grpmax-eligible	0.175%	572
East Asiangrpmax	0.118%	848
Middle Eastern	0.0349%	2,862
Admixed American	0.0254%	3,937
South Asian	0.00668%	14,972
African / African-American	0.00543%	18,417
European (non-Finnish)	0.00247%	40,468
Finnishnot grpmax-eligible	0.00209%	47,938

Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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.Phe201=
Coding: c.603C>T
MANE Select: NM_000797
dbSNP: rs199869206
Type: single nucleotide variant
Location: chr11:639852 (GRCh38)
Gene constraint: LOEUF 1.952 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.06 · 2 PDB
Residue 201: an α-helix

Full DRD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-phe201 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown