FUT8 p.Pro340=
c.1020T>C · VCV4762249
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.16 | GERP -0.93, phastCons 0.73 |
| Overall | ||
| CADD | 8.538 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- FUT8
- Protein
- p.Pro340=
- Coding
- c.1020T>C
- MANE Select
- NM_001371533
- Type
- single nucleotide variant
- Location
- chr14:65721959 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
- Residue 340
- 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
Similar variants
- FUT8 p.Pro340Ala Uncertain significance ★ ⚠ same residue
- FUT8 p.Arg239Ter Pathogenic ★★ same type
- FUT8 p.Ala518Thr Uncertain significance ★★ ⚠ same type
- FUT8 p.Arg395Cys Uncertain significance ★★ ⚠ same type
- FUT8 p.Arg559Ter Uncertain significance ★★ same type
- FUT8 p.Gly107Asp Uncertain significance ★★ ⚠ same type
- FUT8 p.Gly437Val Uncertain significance ★★ ⚠ same type
- FUT8 p.Ile163Val Uncertain significance ★★ ⚠ 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-pro340 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown