WDR91 p.Phe294=
c.882C>T · rs199762627 · VCV2658005
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0637%, sas)
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 -0.22 | GERP -2.7 |
| Overall | ||
| CADD | 6.663 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0637%
South Asian · 58/91,076 alleles
Filtering AF
0.0505%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0458%
Overall
0.0109%
176/1,614,006 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0637% | 1,570 |
| Middle Eastern | 0.033% | 3,029 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,417 |
| European (non-Finnish) | 0.00864% | 11,568 |
| Finnishnot grpmax-eligible | 0.00626% | 15,983 |
| African / African-American | 0.00533% | 18,763 |
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
- WDR91
- Protein
- p.Phe294=
- Coding
- c.882C>T
- MANE Select
- NM_014149
- dbSNP
- rs199762627
- Type
- single nucleotide variant
- Location
- chr7:135204277 (GRCh38)
- Gene constraint
- LOEUF 0.716 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.01 · 10 PDB
- Residue 294
- the 'disordered' region
Similar variants
- WDR91 p.Ser526= Benign ★★ same type
- WDR91 p.Ser676= Benign ★★ same type
- WDR91 c.1768+1G>A Pathogenic ★ same type
- WDR91 c.511+1A>G Likely pathogenic ★ same type
- WDR91 p.Gln334Ter Likely pathogenic ★ same type
- WDR91 p.Ala358Thr Uncertain significance ★ ⚠ same type
- WDR91 p.Ala582Val Uncertain significance ★ ⚠ same type
- WDR91 p.Ala673Val 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/wdr91-p-phe294 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown