AEBP1 p.Pro103=
c.309C>T · rs2484336812 · VCV2806903
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 0.58 | GERP 0.21, phastCons 0.42 |
| Overall | ||
| CADD | 10.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,050 alleles
Overall
6.2e-05%
1/1,611,610 alleles · ultra-rare
exomes 1/1,459,440 · genomes 0/152,170 · joint denominator
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.Pro103=
- Coding
- c.309C>T
- MANE Select
- NM_001129
- dbSNP
- rs2484336812
- Type
- single nucleotide variant
- Location
- chr7:44106601 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.99
- Residue 103
- the 'disordered' region
Similar variants
- 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
- AEBP1 p.Tyr428Ter 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-pro103 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown