MFF p.Pro54fs
c.159del · VCV4073431
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.9 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MFF
- Protein
- p.Pro54fs
- Coding
- c.159del
- MANE Select
- NM_001277062
- Type
- Deletion
- Location
- chr2:227330823 (GRCh38)
- Gene constraint
- LOEUF 0.623 · pLI 0.65 (gnomAD)
- Structure
- AlphaFold pLDDT 64.74
Disease context
encephalopathy due to defective mitochondrial and peroxisomal fission 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet):
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- MFF p.Glu127fs Pathogenic ★ same condition
- MFF p.Thr95fs Pathogenic ★ same condition
- MFF p.Pro54= Likely benign ★ same residue
- MFF p.Asp75Asn Uncertain significance ★★ ⚠ same condition
- MFF p.Ile250Ser Uncertain significance ★★ ⚠ same condition
- MFF p.Ala210= Benign/Likely benign ★★ same condition
- MFF p.Pro31Leu Benign/Likely benign ★★ same condition
- MFF c.-40-841T>G Likely pathogenic ★ same condition
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-pro54fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown