AEBP1 p.Pro87=
c.261G>A · VCV3383791
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00725%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.079 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.21 | acceptor gain · deltas |
| Constraint at this position | ||
| Conservation | phyloP -3.6 | GERP -2.7 |
| Overall | ||
| CADD | 6.041 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00725%
Admixed American · 4/55,136 alleles
Filtering AF
0.00239%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00144%
Overall
0.00157%
25/1,596,494 alleles · very rare
exomes 19/1,444,512 · genomes 6/151,982 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00725% | 13,784 |
| Remaining individualsnot grpmax-eligible | 0.00485% | 20,601 |
| Finnishnot grpmax-eligible | 0.0032% | 31,275 |
| East Asian | 0.00225% | 44,436 |
| African / African-American | 0.00135% | 74,040 |
| South Asian | 0.00113% | 88,752 |
| European (non-Finnish) | 0.00111% | 90,310 |
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
- AEBP1
- Protein
- p.Pro87=
- Coding
- c.261G>A
- MANE Select
- NM_001129
- Type
- single nucleotide variant
- Location
- chr7:44106553 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.99
- Residue 87
- the 'disordered' region
Similar variants
- AEBP1 p.Pro87Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- AEBP1 c.1018+1G>A Likely pathogenic ★★ same type
- AEBP1 c.1630+1G>A Pathogenic ★★ same type
- AEBP1 c.1630+2T>A Pathogenic ★★ same type
- AEBP1 p.Arg595Ter Pathogenic ★★ same type
- AEBP1 p.Cys581Ter Pathogenic/Likely pathogenic ★★ same type
- AEBP1 p.Cys868Ter Likely pathogenic ★★ same type
- AEBP1 p.Gln781Ter Pathogenic/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/aebp1-p-pro87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown