CTCF p.Leu313del
c.937_939del · VCV4795597
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 0.79 | GERP -1.4, phastCons 1 |
Variant & gene context
- Gene
- CTCF
- Protein
- p.Leu313del
- Coding
- c.937_939del
- MANE Select
- NM_006565
- Type
- Deletion
- Location
- chr16:67612106 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.45 · 21 PDB
- Residue 313
- a UniProt-annotated variant site (found in an endometrial carcinoma sample; uncertain significance); an α-helix
Similar variants
- CTCF p.Lys206fs Pathogenic ★★ same type
- CTCF p.Lys258fs Pathogenic ★★ same type
- CTCF p.Val556_Cys557insTer Pathogenic ★★ same type
- CTCF p.Glu691del Uncertain significance ★★ same type
- CTCF p.Asn241fs Likely pathogenic ★ same type
- CTCF p.Glu230fs Pathogenic ★ same type
- CTCF p.Gly335fs Likely pathogenic ★ same type
- CTCF p.Ile426_His430del Likely pathogenic ★ 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/ctcf-p-leu313del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown