FUT8 p.Val319=
c.957G>T · rs750078645 · VCV3057339
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00891%, eas)
Conditions
1
FUT8-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.055 | GERP -2.8, phastCons 0.86 |
| Overall | ||
| CADD | 7.143 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00891%
East Asian · 4/44,888 alleles
Filtering AF
0.00298%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0018%
Overall
0.000496%
8/1,614,084 alleles · very rare
exomes 6/1,461,890 · genomes 2/152,194 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00891% | 11,222 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,830 |
| Admixed American | 0.00167% | 60,004 |
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
- FUT8
- Protein
- p.Val319=
- Coding
- c.957G>T
- MANE Select
- NM_001371533
- dbSNP
- rs750078645
- Type
- single nucleotide variant
- Location
- chr14:65721896 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
- Residue 319
- a UniProt-annotated variant site (in cdgf1; drastic decrease of protein level in patient's fibroblasts and complete loss of total core fucosylated n-glycans in serum and fibroblasts compared to controls); a UniProt-annotated variant site (in cdgf1; uncertain significance); a UniProt-annotated variant site (in cdgf1; complete loss of total core fucosylated n-glycans in patient's serum and fibroblasts compared to controls); the gt23 domain; an α-helix
Disease context
FUT8-related disorder
Similar variants
- FUT8 p.Asn139= Likely benign same condition
- FUT8 p.Gln507= Likely benign same condition
- FUT8 p.Ile214= Likely benign same condition
- FUT8 p.Leu153Val Benign same condition
- FUT8 p.Thr240= Likely benign same condition
- FUT8 p.Val211= Likely benign same condition
- FUT8 p.Ser263fs Likely pathogenic ★ same condition
- FUT8 p.Arg239Ter 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/fut8-p-val319 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown