Is DRD2 p.Ser311Cys (c.932C>G) pathogenic?

DRD2 p.Ser311Cys (c.932C>G) is classified Benign in DRD2 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-01-07). AlphaMissense: likely benign (0.0815); Common (popmax 5.93%, sas) — too common for a highly-penetrant pathogenic allele; Associated with dystonic disorder.

What condition is associated with DRD2 p.Ser311Cys (c.932C>G)?

DRD2 p.Ser311Cys (c.932C>G) is associated with dystonic disorder (ClinVar).

What do computational predictors say about DRD2 p.Ser311Cys (c.932C>G)?

AlphaMissense predicts likely benign (score 0.0815) — an in-silico prediction, not a clinical call.

DRD2 p.Ser311Cys

Q: How common is DRD2 p.Ser311Cys (c.932C>G) in the general population?

DRD2 p.Ser311Cys (c.932C>G) is common (popmax 5.93%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.932C>G · rs1801028 · VCV256813

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

AlphaMissense

likely benign

0.0815 · ACMG-weighted

gnomAD v4.1

Common

common (popmax 5.93%, sas) — too common for a highly-penetrant pathogenic allele

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

dystonic disorder

Computational evidence

Protein change
AlphaMissense	0.0815	likely benign
REVEL	0.23	benign-leaning
SaProt	LLR -8.49	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.1, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 2,833 bp · p 0.35 · regional, not allelic
Overall
CADD	27.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 5.93% South Asian · 5,400/91,052 alleles

Filtering AF 5.8% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.74%

Overall 2.32% 37,445/1,613,788 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	5.93%	17
Middle Eastern	4.87%	21
Ashkenazi Jewishnot grpmax-eligible	3.83%	26
East Asian	3.47%	29
Remaining individualsnot grpmax-eligible	2.79%	36
Finnishnot grpmax-eligible	2.23%	45
Admixed American	2.16%	46
European (non-Finnish)	2.06%	49
Amishnot grpmax-eligible	0.548%	182
African / African-American	0.387%	259

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.Ser311Cys
Coding: c.932C>G
MANE Select: NM_000795
dbSNP: rs1801028
Type: single nucleotide variant
Location: chr11:113412762 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 72.49 · 11 PDB
Residue 311: 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.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
DRD2 c.1139-653A>C 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/drd2-p-ser311cys (accessed [today's date]).

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