DRD2 p.Ala272=
c.816T>C · rs1299076782 · VCV698072
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
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 -4.1 |
| Overall | ||
| CADD | 4.695 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,940 alleles
Filtering AF
0.000292%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000211%
Overall
0.000559%
9/1,610,840 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,940 |
| European (non-Finnish) | 0.000678% | 147,465 |
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.Ala272=
- Coding
- c.816T>C
- MANE Select
- NM_000795
- dbSNP
- rs1299076782
- Type
- single nucleotide variant
- Location
- chr11:113412878 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.49 · 11 PDB
- Residue 272
- the 'interaction with ppp1r9b' region
Similar variants
- DRD2 p.Arg274Gln Uncertain significance ★★ ⚠ same type
- DRD2 p.Gln366Lys Uncertain significance ★★ ⚠ same type
- DRD2 p.Glu99Lys Uncertain significance ★★ ⚠ same type
- DRD2 p.Gly261Arg Uncertain significance ★★ ⚠ same type
- DRD2 p.His316Pro Uncertain significance ★★ ⚠ same type
- DRD2 p.Ile431Thr Uncertain significance ★★ ⚠ same type
- DRD2 p.Pro300His Uncertain significance ★★ ⚠ same type
- DRD2 p.Val223Ile 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/drd2-p-ala272 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown