Is DRD3 p.Ala17= (c.51A>G) pathogenic?

DRD3 p.Ala17= (c.51A>G) is classified Benign in DRD3 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2018-01-12). Common (popmax 14.2%, sas) — too common for a highly-penetrant pathogenic allele; Associated with tremor, hereditary essential, 1.

What condition is associated with DRD3 p.Ala17= (c.51A>G)?

DRD3 p.Ala17= (c.51A>G) is associated with tremor, hereditary essential, 1 (ClinVar).

DRD3 p.Ala17=

Q: How common is DRD3 p.Ala17= (c.51A>G) in the general population?

DRD3 p.Ala17= (c.51A>G) is common (popmax 14.2%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.51A>G · rs3732783 · VCV342603

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Common

common (popmax 14.2%, sas) — too common for a highly-penetrant pathogenic allele

Conditions

tremor, hereditary essential, 1

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 -0.92	GERP -3.8, phastCons 0.001
Overall
CADD	0.835	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 14.2% South Asian · 12,114/85,482 alleles

Filtering AF 14% ClinGen BA1/BS1 input FAF95, joint · FAF99 13.9%

Overall 6.73% 106,289/1,579,198 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	14.2%	7
African / African-American	12.4%	8
Admixed American	12%	8
Finnishnot grpmax-eligible	10.9%	9
Middle Eastern	8.25%	12
Remaining individualsnot grpmax-eligible	7%	14
Ashkenazi Jewishnot grpmax-eligible	6.39%	16
European (non-Finnish)	5.52%	18
East Asian	1.82%	55
Amishnot grpmax-eligible	1.64%	61

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: DRD3
Protein: p.Ala17=
Coding: c.51A>G
MANE Select: NM_000796
dbSNP: rs3732783
Type: single nucleotide variant
Location: chr3:114171942 (GRCh38)
Gene constraint: LOEUF 0.604 · pLI 0.66 (gnomAD)
Structure: AlphaFold pLDDT 75.70 · 9 PDB

Full DRD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

tremor, hereditary essential, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DRD3 c.-105G>A Likely benign ★★ same condition
DRD3 c.-333G>A Benign ★★ same condition
DRD3 p.Ala38Thr Likely benign ★★ same condition
DRD3 p.Gln240= Benign ★★ same condition
DRD3 p.Gln329= Benign ★★ same condition
DRD3 p.Gly9Ser Benign/Likely benign ★★ same condition
DRD3 p.His359= Benign/Likely benign ★★ same condition
DRD3 p.Pro135His 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/drd3-p-ala17 (accessed [today's date]).

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