MMUT p.Phe307=
c.921C>T · rs773728857 · VCV2428105
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00448%, eas)
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 3.5 | GERP 0.19, phastCons 1 |
| Overall | ||
| CADD | 9.044 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00448%
East Asian · 2/44,682 alleles
Filtering AF
0.000742%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000278%
Overall
0.000372%
6/1,611,874 alleles · very rare
exomes 5/1,459,940 · genomes 1/151,934 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00448% | 22,341 |
| South Asian | 0.0011% | 91,026 |
| European (non-Finnish) | 0.000255% | 392,900 |
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
- MMUT
- Protein
- p.Phe307=
- Coding
- c.921C>T
- MANE Select
- NM_000255
- dbSNP
- rs773728857
- Type
- single nucleotide variant
- Location
- chr6:49453747 (GRCh38)
- Gene constraint
- LOEUF 1.18 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.72 · 6 PDB
- Residue 307
- a UniProt-annotated variant site (in mamm; mut-); a β-strand; a UniProt-annotated variant site (in mamm; mut0)
Similar variants
- MMUT p.Phe307fs Pathogenic ★★ same residue
- MMUT c.1083+2T>A Pathogenic ★★ same type
- MMUT c.1084-10A>G Pathogenic/Likely pathogenic ★★ same type
- MMUT c.1084-2A>G Pathogenic/Likely pathogenic ★★ same type
- MMUT c.1445-2A>G Pathogenic/Likely pathogenic ★★ same type
- MMUT c.1560+1G>T Pathogenic ★★ same type
- MMUT c.1677-1G>A Pathogenic ★★ same type
- MMUT c.1677-1G>C Pathogenic/Likely 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/mmut-p-phe307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown