DLG3 p.Pro89Lys
c.265_266delinsAA · rs1569266884 · VCV591940
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 5.6 | GERP 1.1, phastCons 1 |
| Regional constraint | o/e 1.09 | unconstrained · MANE · 3,743 bp · p 0.36 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DLG3
- Protein
- p.Pro89Lys
- Coding
- c.265_266delinsAA
- MANE Select
- NM_021120
- dbSNP
- rs1569266884
- Type
- Indel
- Location
- chrX:70445466 (GRCh38)
- Structure
- AlphaFold pLDDT 74.35 · 3 PDB
- Residue 89
- the 'disordered' region
Similar variants
- DLG3 c.2348-42_2348-4delinsAAGAGGAAAACAAAATTATTACTGTATACAG 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/dlg3-p-pro89lys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown