CEP63 p.Glu397fs
c.1191_1195del · VCV3661692
Pathogenic
Single submitter
Classification
Pathogenic
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 11 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CEP63
- Protein
- p.Glu397fs
- Coding
- c.1191_1195del
- MANE Select
- NM_001353108
- Type
- Deletion
- Location
- chr3:134550068 (GRCh38)
- Gene constraint
- LOEUF 1.127 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.95 · 4 PDB
Similar variants
- CEP63 p.Glu397Ter Pathogenic ★ same residue
- CEP63 c.1381_1383del Uncertain significance ★★ same type
- KY c.338-18del Benign/Likely benign ★★ same type
- CEP63 c.1627_1673+31del Likely pathogenic ★ same type
- CEP63 p.Arg150fs Pathogenic ★ same type
- CEP63 p.Asp330fs Pathogenic ★ same type
- CEP63 p.Gln80fs Pathogenic ★ same type
- CEP63 p.Glu199fs Likely pathogenic ★ 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/cep63-p-glu397fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown