FUT8 p.Val211=
c.633G>A · rs776199529 · VCV3059592
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0423%, 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 | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.37 | GERP -3.6, phastCons 0.004 |
| Overall | ||
| CADD | 8.894 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0423%
East Asian · 19/44,892 alleles
Filtering AF
0.0276%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.023%
Overall
0.00124%
20/1,613,674 alleles · ultra-rare
exomes 16/1,461,518 · genomes 4/152,156 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0423% | 2,363 |
| European (non-Finnish) | 8.48e-05% | 1,179,880 |
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.Val211=
- Coding
- c.633G>A
- MANE Select
- NM_001371533
- dbSNP
- rs776199529
- Type
- single nucleotide variant
- Location
- chr14:65669278 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
- Residue 211
- the gt23 domain; a β-strand
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.Val319= 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-val211 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown