DHODH p.Pro249=
c.747G>A · rs565333133 · VCV794643
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.216%, sas)
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 -4.1 | GERP -3.4 |
| Overall | ||
| CADD | 4.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.216%
South Asian · 182/84,398 alleles
Filtering AF
0.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.18%
Overall
0.0147%
229/1,556,904 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.216% | 464 |
| East Asian | 0.0169% | 5,923 |
| Remaining individualsnot grpmax-eligible | 0.0133% | 7,539 |
| African / African-American | 0.00545% | 18,364 |
| European (non-Finnish) | 0.00243% | 41,074 |
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
- DHODH
- Protein
- p.Pro249=
- Coding
- c.747G>A
- MANE Select
- NM_001361
- dbSNP
- rs565333133
- Type
- single nucleotide variant
- Location
- chr16:72022403 (GRCh38)
- Gene constraint
- LOEUF 1.034 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 96.13 · 106 PDB
Similar variants
- DHODH p.Pro249Leu Uncertain significance ★ ⚠ same residue
- DHODH p.Arg135Cys Pathogenic/Likely pathogenic ★★ same type
- DHODH p.Arg346Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- DHODH c.*341C>T Uncertain significance ★★ same type
- DHODH p.Arg297His Uncertain significance ★★ ⚠ same type
- DHODH p.Arg35His Uncertain significance ★★ ⚠ same type
- DHODH p.Arg88Ter Uncertain significance ★★ same type
- DHODH p.Arg9Gln 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/dhodh-p-pro249 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown