EHHADH p.Ser285=
c.855C>T · rs752275123 · VCV594275
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0174%, 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 -12 | GERP -3.6 |
| Overall | ||
| CADD | 0.715 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0174%
African / African-American · 13/74,918 alleles
Filtering AF
0.0103%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00813%
Overall
0.00502%
81/1,613,806 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0174% | 5,763 |
| Admixed American | 0.00667% | 15,002 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,622 |
| European (non-Finnish) | 0.00483% | 20,701 |
| East Asian | 0.00223% | 44,900 |
| South Asian | 0.0022% | 45,540 |
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.Ser285=
- Coding
- c.855C>T
- MANE Select
- NM_001966
- dbSNP
- rs752275123
- Type
- single nucleotide variant
- Location
- chr3:185204471 (GRCh38)
- Gene constraint
- LOEUF 0.873 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.07
- Residue 285
- 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-ser285 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown