MAOB p.Phe481=
c.1443T>C · rs146667571 · VCV740061
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.136%, afr)
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 5.1 | GERP 0.18, phastCons 1 |
| Overall | ||
| CADD | 5.51 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.136%
African / African-American · 78/57,177 alleles
Filtering AF
0.112%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.103%
Overall
0.00687%
83/1,208,984 alleles · rare
exomes 28/1,097,147 · genomes 55/111,837 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.136% | 733 |
| Admixed American | 0.00875% | 11,434 |
| Remaining individualsnot grpmax-eligible | 0.0021% | 47,555 |
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.Phe481=
- Coding
- c.1443T>C
- MANE Select
- NM_000898
- dbSNP
- rs146667571
- Type
- single nucleotide variant
- Location
- chrX:43767586 (GRCh38)
- Structure
- AlphaFold pLDDT 95.68 · 57 PDB
- Residue 481
- 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-phe481 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown