AEBP1 p.Ala7=
c.21G>A · rs572403133 · VCV1321677
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.25%, 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 0.45 | GERP 1.1, phastCons 0.17 |
| Overall | ||
| CADD | 12.14 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.25%
South Asian · 1,062/85,006 alleles
Filtering AF
1.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.16%
Overall
0.083%
1,292/1,556,672 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.25% | 80 |
| Remaining individualsnot grpmax-eligible | 0.137% | 730 |
| Middle Eastern | 0.0526% | 1,902 |
| African / African-American | 0.0321% | 3,118 |
| European (non-Finnish) | 0.0102% | 9,774 |
| Finnishnot grpmax-eligible | 0.00522% | 19,172 |
| Admixed American | 0.00188% | 53,252 |
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.Ala7=
- Coding
- c.21G>A
- MANE Select
- NM_001129
- dbSNP
- rs572403133
- Type
- single nucleotide variant
- Location
- chr7:44104686 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.99
Similar variants
- AEBP1 p.Ala7Glu Benign/Likely benign ★★ ⚠ 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-ala7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown