Is DRD5 p.Asp211Asn (c.631G>A) pathogenic?

DRD5 p.Asp211Asn (c.631G>A) is classified Likely benign in DRD5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-18). AlphaMissense: likely benign (0.0731); Rare (popmax 0.57%, afr); Associated with DRD5-related disorder.

What condition is associated with DRD5 p.Asp211Asn (c.631G>A)?

DRD5 p.Asp211Asn (c.631G>A) is associated with DRD5-related disorder (ClinVar).

How common is DRD5 p.Asp211Asn (c.631G>A) in the general population?

DRD5 p.Asp211Asn (c.631G>A) is rare (popmax 0.57%, afr) (gnomAD).

What do computational predictors say about DRD5 p.Asp211Asn (c.631G>A)?

AlphaMissense predicts likely benign (score 0.0731) — an in-silico prediction, not a clinical call.

DRD5 p.Asp211Asn

c.631G>A · rs137945596 · VCV3034554

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0731 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.57%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

DRD5-related disorder

Computational evidence

Protein change
AlphaMissense	0.0731	likely benign
REVEL	0.074	moderately benign-leaning
SaProt	LLR -7.14	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 1.2	GERP -0.57, phastCons 0.001
Regional constraint	o/e 1.15	unconstrained · MANE · 1,430 bp · p 9.4e-05 · regional, not allelic
Overall
CADD	9.627	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 0.57% African / African-American · 428/75,046 alleles

Filtering AF 0.526% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.508%

Overall 0.0307% 495/1,614,004 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.57%	175
Admixed American	0.05%	2,001
Remaining individualsnot grpmax-eligible	0.0432%	2,315
South Asian	0.0022%	45,540
European (non-Finnish)	0.000678%	147,484

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: DRD5
Protein: p.Asp211Asn
Coding: c.631G>A
MANE Select: NM_000798
dbSNP: rs137945596
Type: single nucleotide variant
Location: chr4:9782660 (GRCh38)
Gene constraint: LOEUF 1.851 · pLI 0.09 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 69.45 · 1 PDB
Residue 211: a disulfide bond

Full DRD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DRD5-related disorder

Similar variants

DRD5 p.Val115Ile Uncertain significance ★ ⚠ same condition
DRD5 c.-5C>G Likely benign same condition
DRD5 p.Arg72= Likely benign same condition
DRD5 p.Cys62Ter Likely benign same condition
DRD5 p.His268Gln Benign same condition
DRD5 p.Val59Met Uncertain significance ★★ ⚠ same type
DRD5 c.-226G>C Benign ★★ same type
DRD5 c.*178G>T 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/drd5-p-asp211asn (accessed [today's date]).

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