RAF1 p.Val226=
c.678T>G · rs1553614183 · VCV515969
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -0.65, phastCons 1 |
| Overall | ||
| CADD | 11.41 | 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
- RAF1
- Protein
- p.Val226=
- Coding
- c.678T>G
- MANE Select
- NM_002880
- dbSNP
- rs1553614183
- Type
- single nucleotide variant
- Location
- chr3:12606203 (GRCh38)
- Gene constraint
- LOEUF 0.353 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.24 · 76 PDB
- Residue 226
- the 'disordered' region
Similar variants
- RAF1 p.Val226Ile Conflicting classifications of pathogenicity ★ ⚠ same residue
- RAF1 p.Arg256Ser Likely pathogenic ★★★ ⚠ same type
- RAF1 p.Gly361Ala Pathogenic ★★★ ⚠ same type
- RAF1 p.Leu613Val Pathogenic ★★★ same type
- RAF1 p.Pro261Ser Pathogenic ★★★ ⚠ same type
- RAF1 p.Ser257Leu Pathogenic ★★★ ⚠ same type
- RAF1 p.Ser257Pro Likely pathogenic ★★★ ⚠ same type
- RAF1 p.Ser259Ala 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/raf1-p-val226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown