FUT8 p.Pro522=
c.1566C>T · rs2503509005 · VCV2105446
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
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 -0.17 | GERP -1.6, phastCons 0.3 |
| Overall | ||
| CADD | 7.065 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,382 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,613,076 alleles · very rare
exomes 2/1,461,092 · genomes 0/151,984 · joint denominator
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.Pro522=
- Coding
- c.1566C>T
- MANE Select
- NM_001371533
- dbSNP
- rs2503509005
- Type
- single nucleotide variant
- Location
- chr14:65742248 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
- Residue 522
- 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 sh3 domain
Similar variants
- 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
- FUT8 p.Ile454Val 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-pro522 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown