MAFB p.Asp209=
c.627C>T · VCV4779806
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00176%, 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 7.4 | GERP 0.21, phastCons 1 |
| Overall | ||
| CADD | 13.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00176%
Admixed American · 1/56,714 alleles
Filtering AF
0.000433%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000315%
Overall
0.000697%
11/1,578,052 alleles · very rare
exomes 11/1,425,746 · genomes 0/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00176% | 56,714 |
| European (non-Finnish) | 0.000855% | 116,913 |
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.Asp209=
- Coding
- c.627C>T
- MANE Select
- NM_005461
- Type
- single nucleotide variant
- Location
- chr20:40688224 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
- Residue 209
- the 'disordered' region
Similar variants
- MAFB p.Asp209Gly 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-asp209 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown