DRD4 p.Val42=
c.126G>A · rs570777638 · VCV764861
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0248%, 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 1.3 | GERP -3.9, phastCons 0.99 |
| Overall | ||
| CADD | 9.165 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0248%
African / African-American · 18/72,520 alleles
Filtering AF
0.016%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0132%
Overall
0.00144%
22/1,529,392 alleles · ultra-rare
exomes 10/1,377,304 · genomes 12/152,088 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0248% | 4,029 |
| East Asian | 0.00247% | 40,472 |
| Admixed American | 0.00197% | 50,786 |
| Remaining individualsnot grpmax-eligible | 0.00168% | 59,602 |
| European (non-Finnish) | 8.74e-05% | 1,143,961 |
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
- DRD4
- Protein
- p.Val42=
- Coding
- c.126G>A
- MANE Select
- NM_000797
- dbSNP
- rs570777638
- Type
- single nucleotide variant
- Location
- chr11:637430 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.06 · 2 PDB
- Residue 42
- an α-helix
Similar variants
- DRD4 p.Val42Met Uncertain significance ★ ⚠ same residue
- DRD4 p.Asn309Asp Uncertain significance ★★ ⚠ same type
- DRD4 p.Ser308Pro Uncertain significance ★★ ⚠ same type
- DRD4 p.Ala335Gly Benign ★★ same type
- DRD4 p.Gly11Arg Benign ★★ same type
- DRD4 p.Leu83= Likely benign ★★ same type
- DRD4 p.Pro244= Likely benign ★★ same type
- DRD4 p.Pro248= Likely 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/drd4-p-val42 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown