IL17RD p.Ser697=
c.2091C>T · rs201532439 · VCV3005910
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00117%, sas)
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 -5.5 | GERP -5.1 |
| Overall | ||
| CADD | 2.396 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00117%
South Asian · 1/85,602 alleles
Overall
6.34e-05%
1/1,577,612 alleles · very rare
exomes 0/1,425,252 · genomes 1/152,360 · joint denominator
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
- IL17RD
- Protein
- p.Ser697=
- Coding
- c.2091C>T
- MANE Select
- NM_017563
- dbSNP
- rs201532439
- Type
- single nucleotide variant
- Location
- chr3:57097612 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.68
- Residue 697
- the 'disordered' region
Similar variants
- IL17RD p.Ser697Phe Uncertain significance ★ ⚠ same residue
- IL17RD c.814-3C>T Uncertain significance ★★ same type
- IL17RD p.Ala458Gly Uncertain significance ★★ ⚠ same type
- IL17RD p.Arg203Gln Uncertain significance ★★ ⚠ same type
- IL17RD p.Arg355Gln Uncertain significance ★★ ⚠ same type
- IL17RD p.Asn19Ser Uncertain significance ★★ ⚠ same type
- IL17RD p.Gln523His Uncertain significance ★★ ⚠ same type
- IL17RD p.Gln563Arg 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/il17rd-p-ser697 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown