CSF1R p.Val831fs
c.2491_2492del · VCV3686206
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 21 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CSF1R
- Protein
- p.Val831fs
- Coding
- c.2491_2492del
- MANE Select
- NM_001288705
- Type
- Microsatellite
- Location
- chr5:150056088 (GRCh38)
- Gene constraint
- LOEUF 0.485 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 78.08 · 26 PDB
- Residue 831
- the protein kinase domain; a UniProt-annotated variant site (in banddos)
Similar variants
- CSF1R p.Glu945del Uncertain significance ★★ same type
- CSF1R p.Ser939_Ser940del Uncertain significance ★★ same type
- CSF1R p.Glu739fs Pathogenic ★ same type
- CSF1R p.Ser367fs Pathogenic ★ same type
- CSF1R p.934GS[3] Uncertain significance ★ same type
- CSF1R p.Asn241del Uncertain significance ★ same type
- CSF1R p.Ile553del Uncertain significance ★ same type
- CSF1R p.Leu10del Uncertain significance ★ 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/csf1r-p-val831fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown