BAP1 p.Ser596Asn
c.1787_1788delinsAT · VCV3364548
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 2.9 | GERP -0.27, phastCons 1 |
Variant & gene context
- Gene
- BAP1
- Protein
- p.Ser596Asn
- Coding
- c.1787_1788delinsAT
- MANE Select
- NM_004656
- Type
- Indel
- Location
- chr3:52403240 (GRCh38)
- Gene constraint
- LOEUF 0.324 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87 · 4 PDB
- Residue 596
- a UniProt-annotated variant site (in tpds1); the 'disordered' region; the 'interaction with brca1' region
Similar variants
- BAP1 p.Ser596Lys Uncertain significance ★ same residue
- BAP1 p.Ser596fs Pathogenic ★★ same residue
- BAP1 p.Ser596Gly Benign ★★ same residue
- BAP1 p.Ser596Arg Uncertain significance ★ ⚠ same residue
- BAP1 p.Ser596Thr Likely pathogenic ⚠ same residue
- BAP1 p.Ala304Asn Uncertain significance ★★ same type
- BAP1 p.Ala378Leu Uncertain significance ★★ same type
- BAP1 p.Ala471Ile 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/bap1-p-ser596asn (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown