COMP p.Glu457del
c.1368GGA[1] · rs1601053887 · VCV807399
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
COMP-related disorder
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 2.5 | GERP -4, phastCons 1 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- COMP
- Protein
- p.Glu457del
- Coding
- c.1368GGA[1]
- MANE Select
- NM_000095
- dbSNP
- rs1601053887
- Type
- Microsatellite
- Location
- chr19:18786081 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 457
- a UniProt-annotated variant site (in edm1); the 'disordered' region; a disulfide bond
Similar variants
- COMP p.Asp374del Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp473del Pathogenic ★★ same condition
- COMP p.Asp473dup Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp472_Asp473dup Pathogenic/Likely pathogenic same condition
- COMP p.Asn489Lys Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp269Gly Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp273Val Likely pathogenic ★★ same condition
- COMP p.Asp326Asn Pathogenic/Likely pathogenic ★★ 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/comp-p-glu457del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown