AEBP1 p.Val577=
c.1731G>A · VCV3629404
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0582%, sas)
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 0.38 | GERP 0.72, phastCons 0.98 |
| Overall | ||
| CADD | 6.392 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0582%
South Asian · 52/89,392 alleles
Filtering AF
0.0455%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.041%
Overall
0.00357%
57/1,596,428 alleles · ultra-rare
exomes 49/1,444,270 · genomes 8/152,158 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0582% | 1,719 |
| Remaining individualsnot grpmax-eligible | 0.00487% | 20,548 |
| African / African-American | 0.0027% | 37,049 |
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.Val577=
- Coding
- c.1731G>A
- MANE Select
- NM_001129
- Type
- single nucleotide variant
- Location
- chr7:44111521 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.99
- Residue 577
- the peptidase m14 domain; the 'interaction with mapk1 and mapk3' region; the 'interaction with pten' region
Similar variants
- AEBP1 p.Val577Met Uncertain significance ★ ⚠ 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-val577 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown