Is MAOB p.Phe103Ser (c.308T>C) pathogenic?

MAOB p.Phe103Ser (c.308T>C) is classified Uncertain significance in MAOB (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-26). AlphaMissense: likely pathogenic (0.7118); Absent from gnomAD v4.1.

How common is MAOB p.Phe103Ser (c.308T>C) in the general population?

MAOB p.Phe103Ser (c.308T>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about MAOB p.Phe103Ser (c.308T>C)?

AlphaMissense predicts likely pathogenic (score 0.7118) — an in-silico prediction, not a clinical call.

MAOB p.Phe103Ser

c.308T>C · VCV3869952

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7118 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.7118	likely pathogenic
REVEL	0.191	benign-leaning
SaProt	LLR -6.84	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 11	GERP 1.9, phastCons 1
Regional constraint	o/e 0.87	unconstrained · MANE · 115 kb · p 0.0071 · regional, not allelic
Overall
CADD	21.5	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MAOB
Protein: p.Phe103Ser
Coding: c.308T>C
MANE Select: NM_000898
Type: single nucleotide variant
Location: chrX:43803376 (GRCh38)
Structure: AlphaFold pLDDT 95.68 · 57 PDB
Residue 103: a β-strand

Full MAOB gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-phe103ser (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown