Is DRD2 p.Arg20= (c.60G>A) pathogenic?

DRD2 p.Arg20= (c.60G>A) is classified Benign in DRD2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-27). Low-frequency (popmax 3.74%, afr); Associated with dystonic disorder.

What condition is associated with DRD2 p.Arg20= (c.60G>A)?

DRD2 p.Arg20= (c.60G>A) is associated with dystonic disorder (ClinVar).

How common is DRD2 p.Arg20= (c.60G>A) in the general population?

DRD2 p.Arg20= (c.60G>A) is low-frequency (popmax 3.74%, afr) (gnomAD).

DRD2 p.Arg20=

c.60G>A · rs4986923 · VCV695347

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 3.74%, afr)

Conditions

dystonic 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 0.084	GERP -3, phastCons 0.85
Overall
CADD	6.702	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 3.74% African / African-American · 2,810/75,040 alleles

Filtering AF 3.63% ClinGen BA1/BS1 input FAF95, joint · FAF99 3.58%

Overall 0.203% 3,276/1,614,182 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	3.74%	27
Admixed American	0.323%	309
Remaining individualsnot grpmax-eligible	0.294%	340
Middle Eastern	0.0825%	1,212
East Asian	0.00891%	11,219
European (non-Finnish)	0.00636%	15,734
South Asian	0.00439%	22,770

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: DRD2
Protein: p.Arg20=
Coding: c.60G>A
MANE Select: NM_000795
dbSNP: rs4986923
Type: single nucleotide variant
Location: chr11:113424592 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 72.49 · 11 PDB

Full DRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

dystonic disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DRD2 p.Arg20Trp Uncertain significance ★ ⚠ same residue
DRD2 p.Arg274Gln Uncertain significance ★★ ⚠ same condition
DRD2 p.Gln366Lys Uncertain significance ★★ ⚠ same condition
DRD2 p.Glu99Lys Uncertain significance ★★ ⚠ same condition
DRD2 p.Gly261Arg Uncertain significance ★★ ⚠ same condition
DRD2 p.His316Pro Uncertain significance ★★ ⚠ same condition
DRD2 p.Ile431Thr Uncertain significance ★★ ⚠ same condition
DRD2 p.Pro300His Uncertain significance ★★ ⚠ 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/drd2-p-arg20 (accessed [today's date]).

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