COCH p.Arg263fs
c.787dup · VCV4740428
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 10 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.52 | GERP 0.45, phastCons 0.95 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COCH
- Protein
- p.Arg263fs
- Coding
- c.787dup
- MANE Select
- NM_004086
- Type
- Duplication
- Location
- chr14:30885445 (GRCh38)
- Gene constraint
- LOEUF 0.896 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.93 · 1 PDB
- Residue 263
- a UniProt-annotated variant site (in dfnb110); the vwfa 1 domain
Similar variants
- COCH p.Ser381delinsArgTer Pathogenic ★★ same type
- COCH p.Ile372fs Pathogenic ★ same type
- COCH p.Ala432_Val433insAla Uncertain significance ★ same type
- COCH c.1477+41dup Benign ★ same type
- COCH c.1478-201_1478-198dup Benign ★ same type
- STRN3 c.*516_*517dup Likely benign ★ same type
- COCH p.Phe329fs 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/coch-p-arg263fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown