WDR35 p.Pro247=
c.741C>T · rs766515427 · VCV3032181
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, eas)
Conditions
1
WDR35-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.7 | GERP -3.4 |
| Overall | ||
| CADD | 0.417 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
East Asian · 6/44,844 alleles
Filtering AF
0.00579%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00394%
Overall
0.00198%
32/1,613,104 alleles · ultra-rare
exomes 31/1,460,920 · genomes 1/152,184 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0134% | 7,474 |
| European (non-Finnish) | 0.0022% | 45,366 |
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
- WDR35
- Protein
- p.Pro247=
- Coding
- c.741C>T
- MANE Select
- NM_020779
- dbSNP
- rs766515427
- Type
- single nucleotide variant
- Location
- chr2:19973704 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.93 · 4 PDB
Similar variants
- WDR35 p.Pro247Thr Uncertain significance ★★ ⚠ same residue
- WDR35 p.Pro247Ser Uncertain significance ★ ⚠ same residue
- WDR35 p.Arg564Ter Pathogenic/Likely pathogenic ★★ same condition
- WDR35 p.Arg582Ter Pathogenic/Likely pathogenic ★★ same condition
- WDR35 p.Gly69Asp Pathogenic/Likely pathogenic ★★ same condition
- WDR35 p.Leu1115= Pathogenic ★★ same condition
- WDR35 p.Leu630Ter Pathogenic/Likely pathogenic ★★ same condition
- WDR35 p.Lys958Asn 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/wdr35-p-pro247 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown