ELN p.Ala532del
c.1593_1595del · VCV3645238
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
supravalvular aortic stenosis
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 -11 | GERP -12 |
Variant & gene context
- Gene
- ELN
- Protein
- p.Ala532del
- Coding
- c.1593_1595del
- MANE Select
- NM_000501
- Type
- Deletion
- Location
- chr7:74060154 (GRCh38)
- Gene constraint
- LOEUF 0.696 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 36.20
Similar variants
- ELN p.Ala532Thr Uncertain significance ★ ⚠ same residue
- ELN p.Ala718fs Likely pathogenic ★★ same condition
- ELN p.Ala99fs Pathogenic ★★ same condition
- ELN p.Gln253fs Pathogenic/Likely pathogenic ★★ same condition
- ELN p.Gly514fs Pathogenic/Likely pathogenic ★★ same condition
- ELN p.Gly688fs Pathogenic ★★ same condition
- ELN p.Leu56fs Pathogenic/Likely pathogenic ★★ same condition
- ELN p.Pro347fs Pathogenic ★★ same condition
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/eln-p-ala532del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown