ACBD4 p.Glu168=
c.504G>A · rs767049085 · VCV2239873
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00839%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.032 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.22 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -0.72, phastCons 1 |
| Overall | ||
| CADD | 8.608 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00839%
European (non-Finnish) · 99/1,180,008 alleles
Filtering AF
0.00702%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00652%
Overall
0.0062%
100/1,613,842 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00839% | 11,919 |
| Finnishnot grpmax-eligible | 0.00156% | 63,906 |
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
- ACBD4
- Protein
- p.Glu168=
- Coding
- c.504G>A
- MANE Select
- NM_001135705
- dbSNP
- rs767049085
- Type
- single nucleotide variant
- Location
- chr17:45137761 (GRCh38)
- Gene constraint
- LOEUF 1.09 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.38 · 1 PDB
- Residue 168
- the 'disordered' region
Similar variants
- ACBD4 c.*20T>A Uncertain significance ★ same type
- ACBD4 c.*27A>G Uncertain significance ★ same type
- ACBD4 c.*38T>C Uncertain significance ★ same type
- ACBD4 c.*3G>A Uncertain significance ★ same type
- ACBD4 c.*51T>G Uncertain significance ★ same type
- ACBD4 c.*54G>A Uncertain significance ★ same type
- ACBD4 p.Ala282= Uncertain significance ★ same type
- ACBD4 p.Ala282Glu 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/acbd4-p-glu168 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown