MAFB p.Ala201=
c.603G>C · rs781469117 · VCV3013075
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0487%, 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 -5.5 | GERP -4.8 |
| Overall | ||
| CADD | 1.048 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0487%
African / African-American · 36/73,988 alleles
Filtering AF
0.0361%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0318%
Overall
0.00258%
40/1,551,516 alleles · ultra-rare
exomes 25/1,399,338 · genomes 15/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0487% | 2,055 |
| Remaining individualsnot grpmax-eligible | 0.00331% | 30,205 |
| East Asian | 0.00237% | 42,180 |
| European (non-Finnish) | 8.66e-05% | 1,155,400 |
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
- MAFB
- Protein
- p.Ala201=
- Coding
- c.603G>C
- MANE Select
- NM_005461
- dbSNP
- rs781469117
- Type
- single nucleotide variant
- Location
- chr20:40688248 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
- Residue 201
- the 'disordered' region
Similar variants
- MAFB p.Ala201Glu Uncertain significance ★ ⚠ same residue
- 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
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-ala201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown