FUCA1 p.Pro448fs
c.1339_1351del · VCV4813197
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
fucosidosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (8 of 8) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -0.17 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FUCA1
- Protein
- p.Pro448fs
- Coding
- c.1339_1351del
- MANE Select
- NM_000147
- Type
- Deletion
- Location
- chr1:23845765 (GRCh38)
- Gene constraint
- LOEUF 1.162 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.60 · 2 PDB
Disease context
fucosidosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Fucosidosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy
Similar variants
- FUCA1 c.662_662+8del Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 p.Ala3fs Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 p.Cys271fs Pathogenic ★★ same condition
- FUCA1 p.Leu430fs Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 p.Ser221fs Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 p.Ala311fs Likely pathogenic ★ same condition
- FUCA1 p.Ala51fs Likely pathogenic ★ same condition
- FUCA1 p.Asn154fs 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/fuca1-p-pro448fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown