BRAF p.Ala38Glu
c.113_114delinsAA · VCV4774725
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
RASopathy
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 0.12 | GERP -1.6, phastCons 0.14 |
Variant & gene context
- Gene
- BRAF
- Protein
- p.Ala38Glu
- Coding
- c.113_114delinsAA
- MANE Select
- NM_004333
- Type
- Indel
- Location
- chr7:140924590 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 38
- the 'disordered' region
Similar variants
- BRAF p.Ala38Pro Uncertain significance ★★ ⚠ same residue
- BRAF p.Ala38Val Uncertain significance ★★ ⚠ same residue
- BRAF c.2128-16_2128-15delinsTC Likely benign ★★ same condition
- BRAF c.1315-13_1315-12delinsCT Uncertain significance ★ same condition
- BRAF p.Ala38Ser Uncertain significance ★ ⚠ same residue
- BRAF p.Ala38Thr Uncertain significance ★ ⚠ same residue
- BRAF p.Ala38= Likely benign ★ same residue
- BRAF p.Ala246Pro Pathogenic ★★★ 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/braf-p-ala38glu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown