COMP p.Ala173fs
c.517del · VCV3367700
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 5 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.3 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COMP
- Protein
- p.Ala173fs
- Coding
- c.517del
- MANE Select
- NM_000095
- Type
- Deletion
- Location
- chr19:18789171 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 173
- the egf-like 2; calcium-binding domain; a disulfide bond
Similar variants
- COMP p.Asp385del Likely pathogenic ★★ same type
- COMP p.Glu341_Asp342del Pathogenic/Likely pathogenic ★★ same type
- COMP c.1136-1_1144del Likely pathogenic ★ same type
- COMP p.437DG[1] Likely pathogenic ★ same type
- COMP p.Asn350_Asp372del Likely pathogenic ★ same type
- COMP p.Asn474_Asp475del Likely pathogenic ★ same type
- COMP p.Asp509_Ala510delinsGlu Likely pathogenic ★ same type
- COMP p.Gly427fs 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/comp-p-ala173fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown