Is DRD2 p.Pro310= (c.930G>A) pathogenic?

DRD2 p.Pro310= (c.930G>A) is classified Benign in DRD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-23). Rare (popmax 0.288%, eas); Associated with dystonic disorder.

What condition is associated with DRD2 p.Pro310= (c.930G>A)?

DRD2 p.Pro310= (c.930G>A) is associated with dystonic disorder (ClinVar).

How common is DRD2 p.Pro310= (c.930G>A) in the general population?

DRD2 p.Pro310= (c.930G>A) is rare (popmax 0.288%, eas) (gnomAD).

DRD2 p.Pro310=

c.930G>A · rs201422791 · VCV698405

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.288%, eas)

Conditions

dystonic disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>A here scores Δ0.27 · evaluated, not missing
Constraint at this position
Conservation	phyloP -11	GERP -4.1
Overall
CADD	3.234	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.288% East Asian · 129/44,856 alleles

Filtering AF 0.247% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.232%

Overall 0.0135% 217/1,613,184 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.288%	348
Remaining individualsnot grpmax-eligible	0.0416%	2,403
South Asian	0.0253%	3,957
African / African-American	0.00668%	14,972
European (non-Finnish)	0.00288%	34,692

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.Pro310=
Coding: c.930G>A
MANE Select: NM_000795
dbSNP: rs201422791
Type: single nucleotide variant
Location: chr11:113412764 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 72.49 · 11 PDB
Residue 310: the 'interaction with ppp1r9b' region; the 'disordered' region; a UniProt-annotated variant site (in)

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.Pro310Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
DRD2 p.Pro310Leu 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

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-pro310 (accessed [today's date]).

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