MMP14 p.Ala147=
c.441G>A · rs781697049 · VCV2984222
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0156%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.6 | GERP -5 |
| Overall | ||
| CADD | 4.265 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0156%
East Asian · 7/44,896 alleles
Filtering AF
0.00726%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00514%
Overall
0.00124%
20/1,614,026 alleles · ultra-rare
exomes 15/1,461,762 · genomes 5/152,264 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0156% | 6,414 |
| African / African-American | 0.00534% | 18,740 |
| Admixed American | 0.005% | 19,995 |
| Finnishnot grpmax-eligible | 0.00156% | 63,980 |
| South Asian | 0.0011% | 91,086 |
| European (non-Finnish) | 0.000339% | 295,007 |
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.Ala147=
- Coding
- c.441G>A
- MANE Select
- NM_004995
- dbSNP
- rs781697049
- Type
- single nucleotide variant
- Location
- chr14:22842470 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.66 · 12 PDB
- Residue 147
- an α-helix
Similar variants
- MMP14 p.Ala147Val Uncertain significance ★ ⚠ same residue
- MMP14 c.850+2C>T Uncertain significance ★★ same type
- MMP14 p.Ala165Asp Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala366Val Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala539Thr Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala539Val Uncertain significance ★★ ⚠ same type
- MMP14 p.Arg168Cys Uncertain significance ★★ ⚠ same type
- MMP14 p.Arg343Trp 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-ala147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown