EHHADH p.Glu345=
c.1035A>G · VCV4684753
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 12.5%, sas) — too common for a highly-penetrant pathogenic allele
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 0.87 | GERP -0.21, phastCons 1 |
| Overall | ||
| CADD | 5.993 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
12.5%
South Asian · 11,366/91,052 alleles
Filtering AF
12.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 12.2%
Overall
8.19%
132,124/1,614,088 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 12.5% | 8 |
| Admixed American | 10.4% | 10 |
| European (non-Finnish) | 8.26% | 12 |
| Remaining individualsnot grpmax-eligible | 7.88% | 13 |
| East Asian | 7.7% | 13 |
| Middle Eastern | 7.09% | 14 |
| Amishnot grpmax-eligible | 7.02% | 14 |
| Ashkenazi Jewishnot grpmax-eligible | 6.73% | 15 |
| Finnishnot grpmax-eligible | 5.63% | 18 |
| African / African-American | 3.46% | 29 |
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.Glu345=
- Coding
- c.1035A>G
- MANE Select
- NM_001966
- Type
- single nucleotide variant
- Location
- chr3:185193363 (GRCh38)
- Gene constraint
- LOEUF 0.873 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.07
- Residue 345
- the '3-hydroxyacyl-coa dehydrogenase' 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-glu345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown