Is FUT5 p.Arg35Ser (c.103C>A) pathogenic?

FUT5 p.Arg35Ser (c.103C>A) is classified Uncertain significance in FUT5 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-23). AlphaMissense: likely benign (0.3295); Absent from gnomAD v4.1.

How common is FUT5 p.Arg35Ser (c.103C>A) in the general population?

FUT5 p.Arg35Ser (c.103C>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about FUT5 p.Arg35Ser (c.103C>A)?

AlphaMissense predicts likely benign (score 0.3295) — an in-silico prediction, not a clinical call.

FUT5 p.Arg35Ser

c.103C>A · VCV3280203

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3295 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.3295	likely benign
REVEL	0.092	moderately benign-leaning
SaProt	LLR -7.18	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.031	GERP -2.1
Regional constraint	o/e 1.08	unconstrained · MANE · 519 bp · p 0.24 · regional, not allelic
Overall
CADD	15.43	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: FUT5
Protein: p.Arg35Ser
Coding: c.103C>A
MANE Select: NM_002034
Type: single nucleotide variant
Location: chr19:5867623 (GRCh38)
Gene constraint: LOEUF 1.814 · pLI 0.11 (gnomAD)
Structure: AlphaFold pLDDT 88.70

Full FUT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FUT5 p.Arg35Cys Uncertain significance ★ ⚠ same residue
FUT5 p.His334Arg Benign ★★ same type
FUT5 p.Thr338Met Benign ★★ ⚠ same type
FUT5 p.Ala101Gly Uncertain significance ★ ⚠ same type
FUT5 p.Ala101Val Uncertain significance ★ ⚠ same type
FUT5 p.Ala228Val Uncertain significance ★ ⚠ same type
FUT5 p.Ala277Ser Uncertain significance ★ ⚠ same type
FUT5 p.Ala277Thr 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/fut5-p-arg35ser (accessed [today's date]).

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