DRD1 p.Ile144=
c.432C>T · rs116072750 · VCV734126
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.704%, afr)
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 1.9 | GERP 0.053, phastCons 0.97 |
| Overall | ||
| CADD | 6.507 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.704%
African / African-American · 528/75,032 alleles
Filtering AF
0.654%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.634%
Overall
0.037%
597/1,614,144 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.704% | 142 |
| Admixed American | 0.0533% | 1,876 |
| Remaining individualsnot grpmax-eligible | 0.0448% | 2,232 |
| Middle Eastern | 0.033% | 3,031 |
| South Asian | 0.0022% | 45,540 |
| European (non-Finnish) | 0.000424% | 236,007 |
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
- DRD1
- Protein
- p.Ile144=
- Coding
- c.432C>T
- MANE Select
- NM_000794
- dbSNP
- rs116072750
- Type
- single nucleotide variant
- Location
- chr5:175442668 (GRCh38)
- Gene constraint
- LOEUF 0.252 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.23 · 34 PDB
- Residue 144
- a disulfide bond; an α-helix
Similar variants
- DRD1 c.-48G>A Likely benign ★★ same type
- DRD1 p.Ala147Thr Uncertain significance ★ ⚠ same type
- DRD1 p.Ala166Thr Uncertain significance ★ ⚠ same type
- DRD1 p.Ala410Ser Uncertain significance ★ ⚠ same type
- DRD1 p.Ala67Ser Uncertain significance ★ ⚠ same type
- DRD1 p.Arg52Pro Uncertain significance ★ ⚠ same type
- DRD1 p.Asn185Lys Uncertain significance ★ ⚠ same type
- DRD1 p.Cys253Ser Uncertain significance ★ ⚠ 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/drd1-p-ile144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown