BRAF p.Glu221del
c.658GAA[1] · VCV4055997
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 0.8 | GERP 1.2, phastCons 0.021 |
Variant & gene context
- Gene
- BRAF
- Protein
- p.Glu221del
- Coding
- c.658GAA[1]
- MANE Select
- NM_004333
- Type
- Microsatellite
- Location
- chr7:140808008 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 221
- a β-strand; the rbd domain
Similar variants
- BRAF p.28GA[5] Uncertain significance ★★ same type
- BRAF p.Ser127del Uncertain significance ★★ same type
- BRAF c.1432+17_1432+19del Benign/Likely benign ★★ same type
- BRAF c.2128-27_2128-18del Benign/Likely benign ★★ same type
- BRAF c.2128-16_2128-6del Uncertain significance ★ same type
- BRAF c.-95GCCTCC[3] Uncertain significance ★ same type
- BRAF p.28GA[1] Conflicting classifications of pathogenicity ★ same type
- BRAF p.28GA[2] Conflicting classifications of pathogenicity ★ 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/braf-p-glu221del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown