MMP14 p.Ala64del
c.189_191del · rs771845325 · VCV1477292
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 0.11 | GERP -3.6, phastCons 0.11 |
| Overall | ||
| CADD | 18.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,180,028 alleles
Overall
6.2e-05%
1/1,614,052 alleles · very rare
exomes 0/1,461,832 · genomes 1/152,220 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MMP14
- Protein
- p.Ala64del
- Coding
- c.189_191del
- MANE Select
- NM_004995
- dbSNP
- rs771845325
- Type
- Deletion
- Location
- chr14:22841569 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.66 · 12 PDB
Similar variants
- MMP14 p.Ala64Val Uncertain significance ★ ⚠ same residue
- MMP14 p.Ile527del Uncertain significance ★ same type
- MMP14 p.Thr313_Pro316del Uncertain significance ★ same type
- MMP14 c.1012-163del Benign ★ same type
- MMP14 c.108+203_108+204del Benign ★ same type
- MMP14 c.258-78del Benign ★ same type
- MMP14 c.688+11_688+19del Likely benign ★ 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-ala64del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown