EHHADH p.Gln261=
c.783A>G · rs138063371 · VCV751450
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.109%, eas)
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 -2.6 | GERP 0.58 |
| Overall | ||
| CADD | 1.982 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.109%
East Asian · 49/44,880 alleles
Filtering AF
0.0848%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0762%
Overall
0.00372%
60/1,614,238 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.109% | 916 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,502 |
| South Asian | 0.00329% | 30,362 |
| European (non-Finnish) | 0.000254% | 393,343 |
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
- EHHADH
- Protein
- p.Gln261=
- Coding
- c.783A>G
- MANE Select
- NM_001966
- dbSNP
- rs138063371
- Type
- single nucleotide variant
- Location
- chr3:185204543 (GRCh38)
- Gene constraint
- LOEUF 0.873 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.07
- Residue 261
- the 'enoyl-coa hydratase / isomerase' region
Similar variants
- EHHADH p.Ala10Thr Uncertain significance ★★ ⚠ same type
- EHHADH p.Ala118Val Uncertain significance ★★ ⚠ same type
- EHHADH p.Ala294Val Uncertain significance ★★ ⚠ same type
- EHHADH p.Arg183Gly Uncertain significance ★★ ⚠ same type
- EHHADH p.Arg633Cys Uncertain significance ★★ ⚠ same type
- EHHADH p.Arg64Cys Uncertain significance ★★ ⚠ same type
- EHHADH p.Asn629Ser Uncertain significance ★★ ⚠ same type
- EHHADH p.Asp42Glu 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/ehhadh-p-gln261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown