FUS p.Thr317=
c.951G>C · rs771216742 · VCV3030520
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 6.2e-05%)
Conditions
2
tremor, hereditary essential, 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -4.3 |
| Overall | ||
| CADD | 0.472 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.2e-05%
Overall
6.2e-05%
1/1,614,112 alleles · very rare
exomes 1/1,461,860 · genomes 0/152,252 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FUS
- Protein
- p.Thr317=
- Coding
- c.951G>C
- MANE Select
- NM_004960
- dbSNP
- rs771216742
- Type
- single nucleotide variant
- Location
- chr16:31189679 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 317
- the rrm domain; a turn
Similar variants
- FUS p.Arg481Ter Pathogenic/Likely pathogenic ★★ same condition
- FUS p.Arg495Ter Pathogenic ★★ same condition
- FUS p.Arg514Gly Pathogenic ★★ ⚠ same condition
- FUS p.Arg521Cys Pathogenic ★★ same condition
- FUS p.Arg521Gly Pathogenic ★★ same condition
- FUS p.Arg521His Pathogenic ★★ ⚠ same condition
- FUS p.Arg521Leu Pathogenic/Likely pathogenic ★★ same condition
- FUS p.Lys510Glu Pathogenic/Likely pathogenic ★★ ⚠ same condition
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-thr317 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown