WDR36 p.Pro688=
c.2064A>G · rs201288071 · VCV2060870
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.39%, eas)
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 1.2 | GERP 5.4, phastCons 0.99 |
| Overall | ||
| CADD | 8.998 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.39%
East Asian · 625/44,808 alleles
Filtering AF
1.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.27%
Overall
0.0395%
637/1,613,656 alleles · low-frequency
exomes 613/1,461,318 · genomes 24/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.39% | 72 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,248 |
| Admixed American | 0.00333% | 30,008 |
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
- WDR36
- Protein
- p.Pro688=
- Coding
- c.2064A>G
- MANE Select
- NM_139281
- dbSNP
- rs201288071
- Type
- single nucleotide variant
- Location
- chr5:111121057 (GRCh38)
- Gene constraint
- LOEUF 0.706 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.47 · 3 PDB
Similar variants
- WDR36 p.Ala297Ser Uncertain significance ★★ same type
- WDR36 p.Ala75Thr Uncertain significance ★★ same type
- WDR36 p.Arg374His Uncertain significance ★★ same type
- WDR36 p.Arg473Gln Uncertain significance ★★ ⚠ same type
- WDR36 p.Asn87Ser Uncertain significance ★★ ⚠ same type
- WDR36 p.Asp571His Uncertain significance ★★ ⚠ same type
- WDR36 p.Asp686Val Uncertain significance ★★ ⚠ same type
- WDR36 p.Glu674Gly 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/wdr36-p-pro688 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown