ACBD4 p.Gln294Pro
c.881A>C · rs1306652195 · VCV2495198
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00439%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.313 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 6,861 bp · p 0.72 · regional, not allelic |
| Overall | ||
| CADD | 26.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00439%
South Asian · 4/91,064 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.000274%
4/1,461,746 alleles · very rare
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.Gln294Pro
- Coding
- c.881A>C
- MANE Select
- NM_001135705
- dbSNP
- rs1306652195
- Type
- single nucleotide variant
- Location
- chr17:45143534 (GRCh38)
- Gene constraint
- LOEUF 1.09 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.38 · 1 PDB
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-gln294pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown