IL17RD p.Pro354=
c.1062G>A · VCV3707195
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00533%, afr)
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 -14 | GERP -5.9 |
| Overall | ||
| CADD | 0.244 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00533%
African / African-American · 4/75,050 alleles
Filtering AF
0.00174%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00104%
Overall
0.0013%
21/1,613,252 alleles · very rare
exomes 17/1,460,910 · genomes 4/152,342 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00533% | 18,763 |
| Admixed American | 0.005% | 19,996 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,227 |
| South Asian | 0.0011% | 90,984 |
| European (non-Finnish) | 0.000933% | 107,216 |
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.Pro354=
- Coding
- c.1062G>A
- MANE Select
- NM_017563
- Type
- single nucleotide variant
- Location
- chr3:57101281 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.68
Similar variants
- IL17RD p.Pro354Gln 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-pro354 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown