USP8 p.Pro8=
c.24T>C · rs1595904240 · VCV742571
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 12.6 | 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
- USP8
- Protein
- p.Pro8=
- Coding
- c.24T>C
- MANE Select
- NM_005154
- dbSNP
- rs1595904240
- Type
- single nucleotide variant
- Location
- chr15:50439097 (GRCh38)
- Gene constraint
- LOEUF 0.28 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.98 · 9 PDB
- Residue 8
- an α-helix
Similar variants
- USP8 p.Arg133Trp Uncertain significance ★★ ⚠ same type
- USP8 p.Phe875Ser Uncertain significance ★★ ⚠ same type
- USP8 p.Pro703His Uncertain significance ★★ ⚠ same type
- USP8 c.104+16C>T Benign ★★ same type
- USP8 c.250-8A>C Benign ★★ same type
- USP8 c.-58G>C Benign ★★ same type
- USP8 p.Ala348Thr Benign ★★ same type
- USP8 p.Arg483Gln 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/usp8-p-pro8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown