FUT6 p.Pro270=
c.810C>T · VCV4940108
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.44%, 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 -3.4 |
| Overall | ||
| CADD | 6.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.44%
African / African-American · 1,082/74,920 alleles
Filtering AF
1.37%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.34%
Overall
0.0803%
1,296/1,613,194 alleles · low-frequency
exomes 578/1,461,172 · genomes 718/152,022 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.44% | 69 |
| Admixed American | 0.228% | 438 |
| Remaining individualsnot grpmax-eligible | 0.0945% | 1,059 |
| Middle Eastern | 0.0337% | 2,964 |
| South Asian | 0.00549% | 18,207 |
| European (non-Finnish) | 0.000933% | 107,235 |
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
- FUT6
- Protein
- p.Pro270=
- Coding
- c.810C>T
- MANE Select
- NM_000150
- Type
- single nucleotide variant
- Location
- chr19:5831758 (GRCh38)
- Gene constraint
- LOEUF 1.841 · pLI 0.10 (gnomAD)
- Structure
- AlphaFold pLDDT 89.81
Similar variants
- FUT6 p.Ala195= Likely benign ★★ same type
- FUT6 p.Arg303Gly Benign ★★ same type
- FUT6 p.Pro124Ser Benign ★★ ⚠ same type
- FUT6 p.Ala104Gly Uncertain significance ★ ⚠ same type
- FUT6 p.Ala104Thr Uncertain significance ★ ⚠ same type
- FUT6 p.Ala104Val Uncertain significance ★ ⚠ same type
- FUT6 p.Ala187Gly Uncertain significance ★ ⚠ same type
- FUT6 p.Ala263Thr 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/fut6-p-pro270 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown