USP18 p.Asp211=
c.633C>T · rs146833618 · VCV762034
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.202%, afr)
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 -12 | |
| Overall | ||
| CADD | 0.471 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.202%
African / African-American · 150/74,430 alleles
Filtering AF
0.175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.165%
Overall
0.0183%
291/1,591,914 alleles · rare
exomes 183/1,439,692 · genomes 108/152,222 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.202% | 496 |
| South Asian | 0.0298% | 3,358 |
| Remaining individualsnot grpmax-eligible | 0.0244% | 4,105 |
| Middle Eastern | 0.0166% | 6,022 |
| European (non-Finnish) | 0.00788% | 12,695 |
| East Asian | 0.0068% | 14,709 |
| Admixed American | 0.00346% | 28,917 |
| Finnishnot grpmax-eligible | 0.00319% | 31,323 |
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
- USP18
- Protein
- p.Asp211=
- Coding
- c.633C>T
- MANE Select
- NM_017414
- dbSNP
- rs146833618
- Type
- single nucleotide variant
- Location
- chr22:18169849 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 83.60 · 2 PDB
- Residue 211
- the usp domain
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.Asp33Asn Likely benign ★★ same type
- USP18 p.Ile323Val Benign ★★ same type
- USP18 p.Leu134= Benign/Likely 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-asp211 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown