MFF p.Thr95=
c.285G>A · rs11557342 · VCV380072
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 12.1%, amr) — too common for a highly-penetrant pathogenic allele
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 -6.3 | GERP -4.6 |
| Overall | ||
| CADD | 0.252 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
12.1%
Admixed American · 7,224/59,660 alleles
Filtering AF
11.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 11.8%
Overall
8.28%
133,301/1,609,596 alleles · common
exomes 120,582/1,457,480 · genomes 12,719/152,116 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 12.1% | 8 |
| Middle Eastern | 9.12% | 11 |
| South Asian | 9% | 11 |
| Remaining individualsnot grpmax-eligible | 8.88% | 11 |
| Ashkenazi Jewishnot grpmax-eligible | 8.59% | 12 |
| European (non-Finnish) | 8.21% | 12 |
| African / African-American | 7.48% | 13 |
| East Asian | 6.88% | 15 |
| Finnishnot grpmax-eligible | 6.21% | 16 |
| Amishnot grpmax-eligible | 5.81% | 17 |
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
- MFF
- Protein
- p.Thr95=
- Coding
- c.285G>A
- MANE Select
- NM_001277062
- dbSNP
- rs11557342
- Type
- single nucleotide variant
- Location
- chr2:227332522 (GRCh38)
- Gene constraint
- LOEUF 0.623 · pLI 0.65 (gnomAD)
- Structure
- AlphaFold pLDDT 64.74
Similar variants
- MFF p.Thr95Met Uncertain significance ★★ same residue
- MFF p.Thr95fs Pathogenic ★ same residue
- MFF p.Arg128Trp Uncertain significance ★★ ⚠ same type
- MFF p.Arg136Cys Uncertain significance ★★ ⚠ same type
- MFF p.Arg136His Uncertain significance ★★ ⚠ same type
- MFF p.Arg199His Uncertain significance ★★ ⚠ same type
- MFF p.Arg6Gln Uncertain significance ★★ ⚠ same type
- MFF p.Arg92His 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/mff-p-thr95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown