FUCA1 p.Ala14=
c.42G>A · rs2521762660 · VCV2697926
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,559,546)
Conditions
1
fucosidosis
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 -0.81 | GERP 0.28 |
| Overall | ||
| CADD | 9.143 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,559,546). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FUCA1
- Protein
- p.Ala14=
- Coding
- c.42G>A
- MANE Select
- NM_000147
- dbSNP
- rs2521762660
- Type
- single nucleotide variant
- Location
- chr1:23868245 (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.768+1G>A Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 c.768+1G>T Likely pathogenic ★★ same condition
- FUCA1 p.Arg264Ter Pathogenic ★★ same condition
- FUCA1 p.Gln427Ter Pathogenic ★★ same condition
- FUCA1 p.Gln82Ter Pathogenic ★★ same condition
- FUCA1 p.Glu318Ter Pathogenic/Likely pathogenic ★★ same condition
- FUCA1 p.Glu353Ter Pathogenic ★★ same condition
- FUCA1 p.Glu380Ter 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-ala14 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown