ACE p.15PL[3]
c.44CGCTGC[3] · rs532691783 · VCV324358
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.75%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.9 | GERP -3.7 |
| Overall | ||
| CADD | 1.437 | PHRED · no single calibrated threshold — expert panels disagree |
| Region caveats | ||
| Repeat context | tandem | (GCTGCC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.75%
South Asian · 3,356/70,708 alleles
Filtering AF
4.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.56%
Overall
0.598%
8,491/1,420,308 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 4.75% | 21 |
| African / African-American | 2.15% | 46 |
| Middle Eastern | 0.977% | 102 |
| Remaining individualsnot grpmax-eligible | 0.711% | 141 |
| Admixed American | 0.461% | 217 |
| European (non-Finnish) | 0.279% | 358 |
| East Asian | 0.144% | 693 |
| Finnishnot grpmax-eligible | 0.0425% | 2,351 |
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
- ACE
- Protein
- p.15PL[3]
- Coding
- c.44CGCTGC[3]
- MANE Select
- NM_000789
- dbSNP
- rs532691783
- Type
- Microsatellite
- Location
- chr17:63477132 (GRCh38)
- Gene constraint
- LOEUF 0.88 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.38 · 97 PDB
Similar variants
- ACE p.Leu13_Leu14del Pathogenic/Likely pathogenic ★★ same type
- ACE p.15PL[1] Uncertain significance ★★ same type
- ACE p.537QF[3] Likely pathogenic ★ 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/ace-p-15pl-3 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown