MAFB p.Ser114=
c.342G>T · rs746418143 · VCV1659410
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00136%, nfe)
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 0.13 | GERP -2.1, phastCons 0.77 |
| Overall | ||
| CADD | 9.806 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00136%
European (non-Finnish) · 16/1,179,702 alleles
Filtering AF
0.000803%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00065%
Overall
0.00105%
17/1,611,708 alleles · very rare
exomes 11/1,459,516 · genomes 6/152,192 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00136% | 73,732 |
| African / African-American | 0.00133% | 74,910 |
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.Ser114=
- Coding
- c.342G>T
- MANE Select
- NM_005461
- dbSNP
- rs746418143
- Type
- single nucleotide variant
- Location
- chr20:40688509 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
Similar variants
- MAFB p.Ser114Leu Uncertain significance ★ ⚠ same residue
- MAFB p.Ser114Pro Conflicting classifications of pathogenicity ★ ⚠ 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
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-ser114 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown