MAZ p.Ala445=
c.1335A>G · rs370120877 · VCV2646369
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.362%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Overall | ||
| CADD | 0.076 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.362%
East Asian · 162/44,738 alleles
Filtering AF
0.317%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.299%
Overall
0.0995%
1,599/1,607,766 alleles · rare
exomes 1,485/1,456,376 · genomes 114/151,390 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.362% | 276 |
| European (non-Finnish) | 0.112% | 893 |
| African / African-American | 0.0631% | 1,586 |
| Remaining individualsnot grpmax-eligible | 0.0514% | 1,944 |
| Middle Eastern | 0.0505% | 1,982 |
| Admixed American | 0.0251% | 3,985 |
| South Asian | 0.0187% | 5,347 |
| Finnishnot grpmax-eligible | 0.00796% | 12,562 |
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
- MAZ
- Protein
- p.Ala445=
- Coding
- c.1335A>G
- MANE Select
- NM_002383
- dbSNP
- rs370120877
- Type
- single nucleotide variant
- Location
- chr16:29810132 (GRCh38)
- Gene constraint
- LOEUF 0.35 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.37
Similar variants
- PRRT2 p.Ter341Ser Likely pathogenic ★ same type
- MAZ c.1279+1G>A Uncertain significance ★ same type
- MAZ c.1280-347G>C Uncertain significance ★ same type
- MAZ c.1280-351C>T Uncertain significance ★ same type
- MAZ c.1280-353G>C Uncertain significance ★ same type
- MAZ c.1280-357C>T Uncertain significance ★ same type
- MAZ c.1280-376C>T Uncertain significance ★ same type
- MAZ c.1280-385G>A 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/maz-p-ala445 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown