BRAF p.Arg426=
c.1278G>A · rs1586146368 · VCV739543
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.114 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.12 | GERP 0.74, phastCons 0.95 |
| Overall | ||
| CADD | 8.515 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BRAF
- Protein
- p.Arg426=
- Coding
- c.1278G>A
- MANE Select
- NM_004333
- dbSNP
- rs1586146368
- Type
- single nucleotide variant
- Location
- chr7:140783057 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 426
- the 'disordered' region
Similar variants
- BRAF p.Arg426Lys Uncertain significance ★ ⚠ same residue
- BRAF p.Arg426Thr Pathogenic same residue
- BRAF p.Ala246Pro Pathogenic ★★★ same type
- BRAF p.Asn581Asp Pathogenic ★★★ same type
- BRAF p.Asp594Val Pathogenic ★★★ same type
- BRAF p.Cys532Tyr Likely pathogenic ★★★ same type
- BRAF p.Gln257Arg Pathogenic ★★★ same type
- BRAF p.Gly265Arg 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/braf-p-arg426 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown