DOK7 p.Arg591Gln
c.1772G>A · VCV3370761
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0985%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.051 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.71 | GERP -1.8, phastCons 0.022 |
| Overall | ||
| CADD | 1.472 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0985%
African / African-American · 72/73,088 alleles
Filtering AF
0.0802%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0734%
Overall
0.00684%
105/1,534,662 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0985% | 1,015 |
| Remaining individualsnot grpmax-eligible | 0.00835% | 11,979 |
| European (non-Finnish) | 0.00227% | 44,102 |
| Admixed American | 0.00196% | 50,950 |
| South Asian | 0.00119% | 83,978 |
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
- DOK7
- Protein
- p.Arg591Gln
- Coding
- c.1772G>A
- MANE Select
- NM_173660 · reported on NM_001301071
- Type
- single nucleotide variant
- Location
- chr4:3500770 (GRCh38)
- Gene constraint
- LOEUF 1.658 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 65.61
Similar variants
- DOK7 c.331+1G>T Pathogenic ★★ same type
- DOK7 c.332-1G>A Likely pathogenic ★★ same type
- DOK7 c.332-1G>C Likely pathogenic ★★ same type
- DOK7 c.332-1G>T Likely pathogenic ★★ same type
- DOK7 p.Arg158Gln Pathogenic/Likely pathogenic ★★ same type
- DOK7 p.Arg201Ter Pathogenic ★★ same type
- DOK7 p.Cys412Ter Pathogenic ★★ same type
- DOK7 p.Gln151Ter Pathogenic/Likely pathogenic ★★ 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/dok7-p-arg591gln (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown