MAOB p.Pro279=
c.837A>G · rs146482250 · VCV716258
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.379%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.29 | GERP -3.8, phastCons 0.001 |
| Overall | ||
| CADD | 7.332 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.379%
African / African-American · 216/56,955 alleles
Filtering AF
0.338%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.322%
Overall
0.0214%
257/1,199,022 alleles · rare
exomes 123/1,087,128 · genomes 134/111,894 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.379% | 264 |
| Middle Eastern | 0.0923% | 1,083 |
| Admixed American | 0.0417% | 2,399 |
| Remaining individualsnot grpmax-eligible | 0.0317% | 3,151 |
| European (non-Finnish) | 0.000339% | 295,262 |
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
- MAOB
- Protein
- p.Pro279=
- Coding
- c.837A>G
- MANE Select
- NM_000898
- dbSNP
- rs146482250
- Type
- single nucleotide variant
- Location
- chrX:43793510 (GRCh38)
- Structure
- AlphaFold pLDDT 95.68 · 57 PDB
- Residue 279
- an α-helix
Similar variants
- MAOB p.Ala161Ser Uncertain significance ★★ ⚠ same type
- MAOB p.Ala322Thr Uncertain significance ★ ⚠ same type
- MAOB p.Arg100Ser Uncertain significance ★ ⚠ same type
- MAOB p.Arg220Gln Uncertain significance ★ ⚠ same type
- MAOB p.Arg242Lys Uncertain significance ★ ⚠ same type
- MAOB p.Arg282Lys Uncertain significance ★ ⚠ same type
- MAOB p.Arg288His Uncertain significance ★ ⚠ same type
- MAOB p.Arg36Trp 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/maob-p-pro279 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown