BRAF p.Gln344Arg
c.1031A>G · VCV3340668
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4048 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
REVEL, SaProt · AlphaMissense no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4048 | ambiguous |
|---|---|---|
| REVEL | 0.211 | benign-leaning |
| SaProt | LLR -6.03 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | Δ0.27 | acceptor loss, 2 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 3.6, phastCons 1 |
| Overall | ||
| CADD | 27.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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.Gln344Arg
- Coding
- c.1031A>G
- MANE Select
- NM_004333
- Type
- single nucleotide variant
- Location
- chr7:140794417 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 344
- the 'disordered' region
Similar variants
- BRAF p.Gln344His Uncertain significance ★ ⚠ same residue
- BRAF p.Gln344Leu Uncertain significance ★ ⚠ 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-gln344arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown