USP18 p.Pro286=
c.858A>C · VCV4684447
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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 -1.9 | |
| Overall | ||
| CADD | 0.327 | 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
- USP18
- Protein
- p.Pro286=
- Coding
- c.858A>C
- MANE Select
- NM_017414
- Type
- single nucleotide variant
- Location
- chr22:18170887 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 83.60 · 2 PDB
- Residue 286
- the usp domain; a UniProt-annotated variant site (in ptorch2)
Similar variants
- USP18 p.Ser2Asn Uncertain significance ★★ ⚠ same type
- USP18 p.Thr80Ile Uncertain significance ★★ ⚠ same type
- USP18 c.158-5T>G Benign/Likely benign ★★ same type
- USP18 p.Arg289Gln Likely benign ★★ same type
- USP18 p.Asn325Ser Benign/Likely benign ★★ same type
- USP18 p.Asp211= Benign/Likely benign ★★ same type
- USP18 p.Asp33Asn Likely benign ★★ same type
- USP18 p.Ile323Val Benign ★★ 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/usp18-p-pro286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown