MAOA p.Ser94=
c.282T>C · rs910533865 · VCV755848
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00655%, amr)
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 -4.8 | GERP -5.2 |
| Overall | ||
| CADD | 1.488 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00655%
Admixed American · 3/45,784 alleles
Filtering AF
0.00174%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000882%
Overall
0.000579%
7/1,209,479 alleles · very rare
exomes 7/1,097,492 · genomes 0/111,987 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00655% | 15,261 |
| African / African-American | 0.00525% | 19,054 |
| Remaining individualsnot grpmax-eligible | 0.0021% | 47,577 |
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
- MAOA
- Protein
- p.Ser94=
- Coding
- c.282T>C
- MANE Select
- NM_000240
- dbSNP
- rs910533865
- Type
- single nucleotide variant
- Location
- chrX:43693404 (GRCh38)
- Structure
- AlphaFold pLDDT 97.09 · 4 PDB
- Residue 94
- a β-strand
Similar variants
- MAOA p.Ser94Gly Uncertain significance ★★ ⚠ same residue
- MAOA p.Arg45Trp Pathogenic/Likely pathogenic ★★ same type
- MAOA c.1262+3A>G Uncertain significance ★★ same type
- MAOA c.796-10T>C Uncertain significance ★★ same type
- MAOA p.Ala111Thr Uncertain significance ★★ ⚠ same type
- MAOA p.Arg109Trp Uncertain significance ★★ ⚠ same type
- MAOA p.Arg45Gln Uncertain significance ★★ ⚠ same type
- MAOA p.Asn125Ser 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/maoa-p-ser94 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown