Is IL17F p.Val86= (c.258C>A) pathogenic?

IL17F p.Val86= (c.258C>A) is classified Likely benign in IL17F (ClinVar, Single submitter, 1 submitter; last evaluated 2019-01-22). Absent from gnomAD v4.1; Associated with candidiasis, familial, 6.

What condition is associated with IL17F p.Val86= (c.258C>A)?

IL17F p.Val86= (c.258C>A) is associated with candidiasis, familial, 6 (ClinVar).

How common is IL17F p.Val86= (c.258C>A) in the general population?

IL17F p.Val86= (c.258C>A) is absent from gnomAD v4.1 (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

IL17F p.Val86=

c.258C>A · rs2128267452 · VCV1153650

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

candidiasis, familial, 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 5.8	GERP 0.24, phastCons 1
Overall
CADD	5.11	PHRED · no single calibrated threshold — expert panels disagree

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: IL17F
Protein: p.Val86=
Coding: c.258C>A
MANE Select: NM_052872
dbSNP: rs2128267452
Type: single nucleotide variant
Location: chr6:52237165 (GRCh38)
Gene constraint: LOEUF 1.11 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.75 · 9 PDB
Residue 86: a β-strand

Full IL17F gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

candidiasis, familial, 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Chronic mucocutaneous candidiasis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Childhood, Infancy

Similar variants

IL17F p.Ala23Pro Uncertain significance ★★ ⚠ same condition
IL17F p.Arg131Gln Uncertain significance ★★ ⚠ same condition
IL17F p.Arg67His Uncertain significance ★★ ⚠ same condition
IL17F p.Arg72Cys Uncertain significance ★★ ⚠ same condition
IL17F p.Arg92Gln Uncertain significance ★★ same condition
IL17F p.Asn63Ser Uncertain significance ★★ ⚠ same condition
IL17F p.Asp115Glu Uncertain significance ★★ ⚠ same condition
IL17F p.Gln135Glu Uncertain significance ★★ ⚠ same condition

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/il17f-p-val86 (accessed [today's date]).

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