Is FUT7 p.Val91Met (c.271G>A) pathogenic?

FUT7 p.Val91Met (c.271G>A) is classified Uncertain significance in FUT7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-30). AlphaMissense: ambiguous (0.4418); Ultra-rare (popmax 0.0185%, mid).

How common is FUT7 p.Val91Met (c.271G>A) in the general population?

FUT7 p.Val91Met (c.271G>A) is ultra-rare (popmax 0.0185%, mid) (gnomAD).

What do computational predictors say about FUT7 p.Val91Met (c.271G>A)?

AlphaMissense predicts ambiguous (score 0.4418) — an in-silico prediction, not a clinical call.

FUT7 p.Val91Met

c.271G>A · rs749972376 · VCV2341359

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4418 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0185%, mid)

Computational evidence

Protein change
AlphaMissense	0.4418	ambiguous
REVEL	0.397	indeterminate
SaProt	LLR -12.32	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.3	GERP 1.3, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 1,278 bp · p 0.19 · regional, not allelic
Overall
CADD	27.1	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0185% Middle Eastern · 1/5,412 alleles

Filtering AF 0.00674% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00625%

Overall 0.00657% 102/1,552,870 alleles · ultra-rare exomes 92/1,400,642 · genomes 10/152,228 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0185%	5,412
East Asian	0.00965%	10,366
European (non-Finnish)	0.00809%	12,354
Admixed American	0.00586%	17,060
Remaining individualsnot grpmax-eligible	0.00166%	60,100

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: FUT7
Protein: p.Val91Met
Coding: c.271G>A
MANE Select: NM_004479
dbSNP: rs749972376
Type: single nucleotide variant
Location: chr9:137031468 (GRCh38)
Gene constraint: LOEUF 1.191 · pLI 0.13 (gnomAD)
Structure: AlphaFold pLDDT 92.90

Full FUT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FUT7 p.Tyr324His Benign ★★ same type
FUT7 p.Ala174Thr Uncertain significance ★ ⚠ same type
FUT7 p.Ala194Thr Uncertain significance ★ ⚠ same type
FUT7 p.Ala248Ser Uncertain significance ★ ⚠ same type
FUT7 p.Ala26Val Uncertain significance ★ ⚠ same type
FUT7 p.Ala284Val Uncertain significance ★ ⚠ same type
FUT7 p.Ala42Thr Uncertain significance ★ ⚠ same type
FUT7 p.Arg101Gln 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/fut7-p-val91met (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown