RAF1 p.Leu613fs
c.1837_1838del · rs2125316977 · VCV1404139
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -5.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- RAF1
- Protein
- p.Leu613fs
- Coding
- c.1837_1838del
- MANE Select
- NM_002935 · reported on NM_002880
- dbSNP
- rs2125316977
- Type
- Microsatellite
- Location
- chr3:12584623 (GRCh38)
- Structure
- AlphaFold pLDDT 90.69 · 11 PDB
Similar variants
- RAF1 p.Leu613Val Pathogenic ★★★ ⚠ same residue
- RAF1 c.-340_-339GA[1] Benign ★★★ same condition
- RAF1 c.208-6_208-3del Uncertain significance ★★ same condition
- RAF1 p.Asn523del Uncertain significance ★★ same condition
- RAF1 c.1668+10_1668+11del Benign/Likely benign ★★ same condition
- RAF1 c.423+19_423+23del Likely benign ★★ same condition
- RAF1 c.424-5_424-3del Benign/Likely benign ★★ same condition
- RAF1 p.Leu613Ile Likely pathogenic ★ ⚠ same residue
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-leu613fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown