ACE p.Ala596Phe
c.1786_1788delinsTTT · VCV3582496
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
3
renal tubular dysgenesis of genetic origin
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 9.9 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 20 kb · p 0.13 · regional, not allelic |
Variant & gene context
- Gene
- ACE
- Protein
- p.Ala596Phe
- Coding
- c.1786_1788delinsTTT
- MANE Select
- NM_000789
- Type
- Indel
- Location
- chr17:63484406 (GRCh38)
- Gene constraint
- LOEUF 0.88 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.38 · 97 PDB
- Residue 596
- the peptidase m2 1 domain
Similar variants
- ACE p.Pro1180Val Uncertain significance ★★ same condition
- ACE c.1342+1G>T Likely pathogenic ★★ same condition
- ACE c.3503+1G>C Likely pathogenic ★★ same condition
- ACE c.945+2T>G Likely pathogenic ★★ same condition
- ACE p.Arg149fs Pathogenic ★★ same condition
- ACE p.Arg265Ter Pathogenic ★★ same condition
- ACE p.Arg508Ter Pathogenic ★★ same condition
- ACE p.Arg791Ter 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/ace-p-ala596phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown