DOCK1 p.Pro850=
c.2550C>T · rs566942788 · VCV2640960
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.594%, 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 -3.2 | |
| Overall | ||
| CADD | 1.678 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.594%
South Asian · 540/90,884 alleles
Filtering AF
0.553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.536%
Overall
0.0363%
586/1,613,624 alleles · rare
exomes 559/1,461,346 · genomes 27/152,278 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.594% | 168 |
| Remaining individualsnot grpmax-eligible | 0.0544% | 1,838 |
| Middle Eastern | 0.0495% | 2,021 |
| East Asian | 0.00446% | 22,437 |
| African / African-American | 0.00267% | 37,512 |
| Admixed American | 0.00167% | 59,990 |
| European (non-Finnish) | 0.000339% | 294,949 |
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
- DOCK1
- Protein
- p.Pro850=
- Coding
- c.2550C>T
- MANE Select
- NM_001290223
- dbSNP
- rs566942788
- Type
- single nucleotide variant
- Location
- chr10:127110281 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.63 · 1 PDB
Similar variants
- DOCK1 p.Pro1783Ser Uncertain significance ★★ ⚠ same type
- DOCK1 p.Ala1185Thr Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala151Thr Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1578Ser Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1590Gly Uncertain significance ★ same type
- DOCK1 p.Ala1620Val Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1689Ser Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala280Thr 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/dock1-p-pro850 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown