CEP85L p.Thr85fs
c.254del · VCV4085244
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -7.5 | GERP -4.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CEP85L
- Protein
- p.Thr85fs
- Coding
- c.254del
- MANE Select
- NM_001042475
- Type
- Deletion
- Location
- chr6:118566295 (GRCh38)
- Gene constraint
- LOEUF 0.696 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.98
- Residue 85
- the 'disordered' region
Similar variants
- CEP85L p.Asp624fs Uncertain significance ★★ same type
- CEP85L p.Ser20fs Likely pathogenic ★ same type
- PLN p.Gln22fs Likely pathogenic ★ same type
- CEP85L p.Arg151fs Uncertain significance ★ same type
- CEP85L p.Glu140fs Uncertain significance ★ same type
- CEP85L p.Glu9fs Uncertain significance ★ same type
- PLN p.Cys46fs Uncertain significance ★ same type
- PLN p.Ile45fs Uncertain significance ★ 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/cep85l-p-thr85fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown