DOK7 p.Ala505Val
c.1514C>T · VCV4086655
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00595%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.07 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.87 | GERP -0.18 |
| Overall | ||
| CADD | 7.229 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00595%
South Asian · 5/84,042 alleles
Filtering AF
0.00234%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00146%
Overall
0.000723%
10/1,383,718 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00595% | 16,808 |
| European (non-Finnish) | 0.000436% | 229,351 |
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.Ala505Val
- Coding
- c.1514C>T
- MANE Select
- NM_173660 · reported on NM_001301071
- Type
- single nucleotide variant
- Location
- chr4:3496836 (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 p.Ter505Arg Conflicting classifications of pathogenicity ★ same residue
- DOK7 p.Ter505Trp Uncertain significance ★ same residue
- DOK7 p.Ter505= Likely benign ★ same residue
- 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
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-ala505val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown