Is MAFB p.Ala151Val (c.452C>T) pathogenic?

MAFB p.Ala151Val (c.452C>T) is classified Uncertain significance in MAFB (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-10). AlphaMissense: likely benign (0.0955); No allele count reported in gnomAD v4.1 (AN 1,571,508).

How common is MAFB p.Ala151Val (c.452C>T) in the general population?

MAFB p.Ala151Val (c.452C>T) is no allele count reported in gnomAD v4.1 (AN 1,571,508) (gnomAD).

What do computational predictors say about MAFB p.Ala151Val (c.452C>T)?

AlphaMissense predicts likely benign (score 0.0955) — an in-silico prediction, not a clinical call.

MAFB p.Ala151Val

c.452C>T · rs1232452672 · VCV2682455

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0955 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,571,508)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL indeterminate

Computational evidence

Protein change
AlphaMissense	0.0955	likely benign
REVEL	0.322	indeterminate
SaProt	LLR -6.86	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL is indeterminate.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9	GERP 1.1, phastCons 1
Regional constraint	o/e 0.81	unconstrained · MANE · 710 bp · p 0.00051 · regional, not allelic
Overall
CADD	21.8	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,571,508). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: MAFB
Protein: p.Ala151Val
Coding: c.452C>T
MANE Select: NM_005461
dbSNP: rs1232452672
Type: single nucleotide variant
Location: chr20:40688399 (GRCh38)
Gene constraint: LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.87
Residue 151: the 'disordered' region

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

Similar variants

MAFB p.Pro59Leu Pathogenic/Likely pathogenic ★★ same type
MAFB p.Pro63Leu Pathogenic ★★ same type
MAFB p.Ser54Leu Pathogenic ★★ ⚠ same type
MAFB p.Ser69Leu Pathogenic/Likely pathogenic ★★ same type
MAFB p.Ser70Leu Pathogenic/Likely pathogenic ★★ same type
MAFB p.Thr62Ala Pathogenic ★★ same type
MAFB c.-77C>G Uncertain significance ★★ same type
MAFB p.Ala107Thr 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/mafb-p-ala151val (accessed [today's date]).

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