SBF2 p.Phe559Glu
c.1675_1677inv · VCV1016976
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Charcot-Marie-Tooth disease type 4
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 2.4 | GERP -1, phastCons 1 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 514 kb · p 7.7e-06 · regional, not allelic |
Variant & gene context
- Gene
- SBF2
- Protein
- p.Phe559Glu
- Coding
- c.1675_1677inv
- MANE Select
- NM_030962
- Type
- Inversion
- Location
- chr11:9963806 (GRCh38)
- Gene constraint
- LOEUF 0.591 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.74
Similar variants
- SBF2 p.Phe559Val Uncertain significance ★ ⚠ same residue
- SBF2 p.Glu551Val Uncertain significance ★ same condition
- SBF2 c.3653-1G>A Likely pathogenic ★★ same condition
- SBF2 p.Arg342Ter Pathogenic/Likely pathogenic ★★ same condition
- SBF2 p.Arg356Ter Pathogenic ★★ same condition
- SBF2 p.Arg487Ter Pathogenic ★★ same condition
- SBF2 p.Arg77Ter Pathogenic ★★ same condition
- SBF2 c.1601-3T>G Uncertain significance ★★ 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/sbf2-p-phe559glu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown