USP8 p.Pro435del
c.1301CTC[1] · VCV3720027
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary spastic paraplegia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.15 | GERP -0.54, phastCons 0.001 |
Variant & gene context
- Gene
- USP8
- Protein
- p.Pro435del
- Coding
- c.1301CTC[1]
- MANE Select
- NM_005154
- Type
- Microsatellite
- Location
- chr15:50481563 (GRCh38)
- Gene constraint
- LOEUF 0.28 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.98 · 9 PDB
- Residue 435
- the 'disordered' region
Similar variants
- USP8 p.Arg133Trp Uncertain significance ★★ ⚠ same condition
- USP8 p.Phe875Ser Uncertain significance ★★ ⚠ same condition
- USP8 p.Pro703His Uncertain significance ★★ ⚠ same condition
- USP8 c.104+16C>T Benign ★★ same condition
- USP8 c.250-8A>C Benign ★★ same condition
- USP8 p.Ala348Thr Benign ★★ same condition
- USP8 p.Arg483Gln Benign ★★ same condition
- USP8 p.Arg763Trp Benign ★★ ⚠ 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/usp8-p-pro435del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown