MMP14 p.Asp273Ser
c.817_818delinsAG · VCV4778352
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 10 | GERP -0.84, phastCons 1 |
| Regional constraint | o/e 0.86 | unconstrained · MANE · 2,683 bp · p 0.003 · regional, not allelic |
Variant & gene context
- Gene
- MMP14
- Protein
- p.Asp273Ser
- Coding
- c.817_818delinsAG
- MANE Select
- NM_004995
- Type
- Indel
- Location
- chr14:22843385 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.66 · 12 PDB
- Residue 273
- a UniProt-annotated variant site (in); an α-helix
Similar variants
- MMP14 p.Asp273Asn Benign ★★ same residue
- MMP14 p.Asp324Phe 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/mmp14-p-asp273ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown