FUS p.Ser200Arg
c.600T>A · VCV3337131
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.6646 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
AlphaMissense, SaProt · REVEL indeterminate
Computational evidence
| Protein change | ||
| AlphaMissense | 0.6646 | likely pathogenic |
|---|---|---|
| REVEL | 0.53 | indeterminate |
| SaProt | LLR -7.84 | tolerated |
| ⇒ AlphaMissense calls this damaging; SaProt does not; REVEL is indeterminate. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -1.4, phastCons 1 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 4,906 bp · p 0.12 · regional, not allelic |
| Overall | ||
| CADD | 15.66 | 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
- FUS
- Protein
- p.Ser200Arg
- Coding
- c.600T>A
- MANE Select
- NM_004960
- Type
- single nucleotide variant
- Location
- chr16:31185015 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 200
- the 'disordered' region
Similar variants
- FUS p.Arg481Ter Pathogenic/Likely pathogenic ★★ same type
- FUS p.Arg495Ter Pathogenic ★★ same type
- FUS p.Arg514Gly Pathogenic ★★ ⚠ same type
- FUS p.Arg521Cys Pathogenic ★★ same type
- FUS p.Arg521Gly Pathogenic ★★ same type
- FUS p.Arg521His Pathogenic ★★ ⚠ same type
- FUS p.Arg521Leu Pathogenic/Likely pathogenic ★★ same type
- FUS p.Lys510Glu Pathogenic/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/fus-p-ser200arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown