MAFB p.Ser54=
c.162G>A · VCV4763285
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.86 | GERP -4.9, phastCons 0.003 |
| Overall | ||
| CADD | 9.447 | PHRED · no single calibrated threshold — expert panels disagree |
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
- MAFB
- Protein
- p.Ser54=
- Coding
- c.162G>A
- MANE Select
- NM_005461
- Type
- single nucleotide variant
- Location
- chr20:40688689 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
- Residue 54
- a UniProt-annotated variant site (in mcto); the 'disordered' region
Similar variants
- MAFB p.Ser54Leu Pathogenic ★★ ⚠ same residue
- MAFB p.Pro59Leu Pathogenic/Likely pathogenic ★★ same type
- MAFB p.Pro63Leu 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-ser54 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown