DBP p.Val304=
c.912G>A · rs148306408 · VCV774960
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.87%, mid)
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 0.49 | GERP 0.001, phastCons 0.99 |
| Overall | ||
| CADD | 8.45 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.87%
Middle Eastern · 113/6,056 alleles
Filtering AF
1.59%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.48%
Overall
0.95%
15,293/1,609,564 alleles · low-frequency
exomes 14,193/1,457,308 · genomes 1,100/152,256 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.87% | 54 |
| European (non-Finnish) | 1.13% | 89 |
| Remaining individualsnot grpmax-eligible | 0.97% | 103 |
| Admixed American | 0.964% | 104 |
| South Asian | 0.428% | 233 |
| African / African-American | 0.245% | 408 |
| Finnishnot grpmax-eligible | 0.24% | 416 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0543% | 1,840 |
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
- DBP
- Protein
- p.Val304=
- Coding
- c.912G>A
- MANE Select
- NM_001352
- dbSNP
- rs148306408
- Type
- single nucleotide variant
- Location
- chr19:48630903 (GRCh38)
- Gene constraint
- LOEUF 1.043 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.35
- Residue 304
- the bzip domain
Similar variants
- DBP p.Gly24Ser Likely benign ★★ same type
- DBP p.Pro250= Likely benign ★★ same type
- DBP p.Ser156= Likely benign ★★ same type
- DBP p.Ala149Val Uncertain significance ★ ⚠ same type
- DBP p.Ala171Ser Uncertain significance ★ ⚠ same type
- DBP p.Ala324Thr Uncertain significance ★ ⚠ same type
- DBP p.Ala96Ser Uncertain significance ★ ⚠ same type
- DBP p.Ala96Thr 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/dbp-p-val304 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown