Is IL17F p.His161Arg (c.482A>G) pathogenic?

IL17F p.His161Arg (c.482A>G) is classified Benign in IL17F (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-02-04). AlphaMissense: likely benign (0.0899); Common (popmax 13.2%, eas) — too common for a highly-penetrant pathogenic allele; Associated with candidiasis, familial, 6.

What condition is associated with IL17F p.His161Arg (c.482A>G)?

IL17F p.His161Arg (c.482A>G) is associated with candidiasis, familial, 6 (ClinVar).

How is Chronic mucocutaneous candidiasis inherited?

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

What do computational predictors say about IL17F p.His161Arg (c.482A>G)?

AlphaMissense predicts likely benign (score 0.0899) — an in-silico prediction, not a clinical call.

IL17F p.His161Arg

Q: How common is IL17F p.His161Arg (c.482A>G) in the general population?

IL17F p.His161Arg (c.482A>G) is common (popmax 13.2%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.482A>G · rs763780 · VCV357466

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

AlphaMissense

likely benign

0.0899 · ACMG-weighted

gnomAD v4.1

Common

common (popmax 13.2%, eas) — too common for a highly-penetrant pathogenic allele

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

candidiasis, familial, 6

Computational evidence

Protein change
AlphaMissense	0.0899	likely benign
REVEL	0.066	moderately benign-leaning
SaProt	LLR -5.19	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.27	GERP -0.28, phastCons 0.003
Regional constraint	o/e 0.97	unconstrained · MANE · 7,495 bp · p 0.7 · regional, not allelic
Overall
CADD	4.161	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 13.2% East Asian · 5,910/44,874 alleles

Filtering AF 12.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 12.8%

Overall 5.59% 90,157/1,613,046 alleles · common exomes 80,034/1,460,808 · genomes 10,123/152,238 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	13.2%	8
Finnishnot grpmax-eligible	10.5%	10
African / African-American	8.34%	12
South Asian	7.17%	14
Remaining individualsnot grpmax-eligible	6.13%	16
European (non-Finnish)	4.8%	21
Admixed American	4.61%	22
Middle Eastern	4.33%	23
Ashkenazi Jewishnot grpmax-eligible	4.29%	23
Amishnot grpmax-eligible	1.64%	61

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: IL17F
Protein: p.His161Arg
Coding: c.482A>G
MANE Select: NM_052872
dbSNP: rs763780
Type: single nucleotide variant
Location: chr6:52236941 (GRCh38)
Gene constraint: LOEUF 1.11 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.75 · 9 PDB
Residue 161: a UniProt-annotated variant site (in); 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.His161= Likely benign ★ same residue
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

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-his161arg (accessed [today's date]).

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