MAFA p.Ser236=
c.708G>A · rs374635558 · VCV2443166
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.09%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -3.1 |
| Overall | ||
| CADD | 10.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.09%
African / African-American · 810/74,244 alleles
Filtering AF
1.03%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1%
Overall
0.0621%
974/1,569,380 alleles · low-frequency
exomes 481/1,417,378 · genomes 493/152,002 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.09% | 92 |
| Admixed American | 0.128% | 780 |
| Remaining individualsnot grpmax-eligible | 0.0834% | 1,200 |
| Middle Eastern | 0.0521% | 1,919 |
| European (non-Finnish) | 0.00317% | 31,497 |
| South Asian | 0.00115% | 87,288 |
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
- MAFA
- Protein
- p.Ser236=
- Coding
- c.708G>A
- MANE Select
- NM_201589
- dbSNP
- rs374635558
- Type
- single nucleotide variant
- Location
- chr8:143429699 (GRCh38)
- Structure
- AlphaFold pLDDT 64.06 · 1 PDB
Similar variants
- MAFA p.Ala211Thr Uncertain significance ★★ ⚠ same type
- MAFA p.Arg333Trp Uncertain significance ★★ ⚠ same type
- MAFA p.Arg44His Uncertain significance ★★ same type
- MAFA p.Ser64Phe Likely pathogenic ★ same type
- MAFA p.Thr57Arg Pathogenic ★ same type
- MAFA p.Ala138Glu Uncertain significance ★ ⚠ same type
- MAFA p.Ala158Glu Uncertain significance ★ ⚠ same type
- MAFA p.Ala159Val 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/mafa-p-ser236 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown