AP3D1 p.Arg640Ala
c.1918_1919delinsGC · VCV4729860
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 -0.48 | GERP -3.1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 8,543 bp · p 0.28 · regional, not allelic |
Variant & gene context
- Gene
- AP3D1
- Protein
- p.Arg640Ala
- Coding
- c.1918_1919delinsGC
- MANE Select
- NM_001261826
- Type
- Indel
- Location
- chr19:2116687 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.45 · 6 PDB
- Residue 640
- the 'disordered' region
Similar variants
- AP3D1 c.593-18_593-17delinsCG Benign/Likely benign ★★ same type
- AP3D1 c.1860-15_1860-14delinsCT Uncertain significance ★ same type
- AP3D1 c.193-12_193-11delinsAA Uncertain significance ★ same type
- AP3D1 p.Ala53Thr Uncertain significance ★ same type
- AP3D1 p.Pro653Ser Uncertain significance ★ 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/ap3d1-p-arg640ala (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown