FUT8 p.Val85=
c.255T>C · VCV4755243
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.117%, afr)
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 4.2 | GERP 0.7, phastCons 1 |
| Overall | ||
| CADD | 8.016 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.117%
African / African-American · 88/75,036 alleles
Filtering AF
0.0975%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0901%
Overall
0.00651%
105/1,614,014 alleles · rare
exomes 48/1,461,720 · genomes 57/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.117% | 853 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,250 |
| Admixed American | 0.01% | 10,002 |
| European (non-Finnish) | 8.48e-05% | 1,179,926 |
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.Val85=
- Coding
- c.255T>C
- MANE Select
- NM_001371533
- Type
- single nucleotide variant
- Location
- chr14:65616029 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
Similar variants
- FUT8 p.Val85Asp 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-val85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown