MAOB p.Pro134=
c.402A>G · rs76703559 · VCV717563
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.378%, nfe)
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 -10 | GERP -0.75 |
| Overall | ||
| CADD | 1.156 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.378%
European (non-Finnish) · 3,337/882,035 alleles
Filtering AF
0.368%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.363%
Overall
0.3%
3,588/1,194,395 alleles · rare
exomes 3,321/1,081,737 · genomes 267/112,658 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.378% | 264 |
| Remaining individualsnot grpmax-eligible | 0.242% | 413 |
| Middle Eastern | 0.163% | 614 |
| Finnishnot grpmax-eligible | 0.129% | 774 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0869% | 1,150 |
| Admixed American | 0.0395% | 2,529 |
| African / African-American | 0.0384% | 2,601 |
| South Asian | 0.0198% | 5,053 |
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.Pro134=
- Coding
- c.402A>G
- MANE Select
- NM_000898
- dbSNP
- rs76703559
- Type
- single nucleotide variant
- Location
- chrX:43802246 (GRCh38)
- Structure
- AlphaFold pLDDT 95.68 · 57 PDB
- Residue 134
- 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-pro134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown