ACP4 p.Ser341=
c.1023C>T · rs141072588 · VCV3049541
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.182%, mid)
Conditions
1
ACP4-related disorder
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 -5.3 | GERP -3.1 |
| Overall | ||
| CADD | 1.279 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.182%
Middle Eastern · 11/6,036 alleles
Filtering AF
0.102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.079%
Overall
0.0197%
318/1,610,664 alleles · rare
exomes 264/1,458,366 · genomes 54/152,298 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.182% | 549 |
| Admixed American | 0.0737% | 1,357 |
| Remaining individualsnot grpmax-eligible | 0.0481% | 2,079 |
| African / African-American | 0.04% | 2,501 |
| European (non-Finnish) | 0.0166% | 6,042 |
| East Asian | 0.0134% | 7,476 |
| South Asian | 0.00221% | 45,254 |
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
- ACP4
- Protein
- p.Ser341=
- Coding
- c.1023C>T
- MANE Select
- NM_033068
- dbSNP
- rs141072588
- Type
- single nucleotide variant
- Location
- chr19:50794822 (GRCh38)
- Gene constraint
- LOEUF 1.413 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.30
Disease context
ACP4-related disorder
Similar variants
- ACP4 c.1165+2T>G Likely benign same condition
- ACP4 c.549+7A>G Likely benign same condition
- ACP4 p.Ala121= Likely benign same condition
- ACP4 p.Ala325Asp Benign same condition
- ACP4 p.Ala325Thr Benign same condition
- ACP4 p.His218= Likely benign same condition
- ACP4 p.Pro155= Likely benign same condition
- ACP4 p.Pro46= Likely benign same condition
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/acp4-p-ser341 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown