DOCK10 p.Asp2034=
c.6102C>T · rs16866166 · VCV791895
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.62%, afr)
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 | GERP -5.1 |
| Overall | ||
| CADD | 1.449 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.62%
African / African-American · 1,216/75,016 alleles
Filtering AF
1.55%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.51%
Overall
0.0841%
1,358/1,613,854 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.62% | 62 |
| Admixed American | 0.102% | 984 |
| Remaining individualsnot grpmax-eligible | 0.0816% | 1,225 |
| European (non-Finnish) | 0.00237% | 42,138 |
| South Asian | 0.0022% | 45,539 |
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
- DOCK10
- Protein
- p.Asp2034=
- Coding
- c.6102C>T
- MANE Select
- NM_014689
- dbSNP
- rs16866166
- Type
- single nucleotide variant
- Location
- chr2:224773259 (GRCh38)
- Gene constraint
- LOEUF 0.649 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.47 · 4 PDB
- Residue 2034
- the docker domain; an α-helix
Similar variants
- DOCK10 p.Ser1349= Benign ★★ same type
- DOCK10 p.Thr1950= Benign ★★ same type
- DOCK10 p.Ala112Ser Uncertain significance ★ ⚠ same type
- DOCK10 p.Ala1135Thr Uncertain significance ★ ⚠ same type
- DOCK10 p.Ala1175Thr Uncertain significance ★ ⚠ same type
- DOCK10 p.Ala1177Ser Uncertain significance ★ ⚠ same type
- DOCK10 p.Ala1271Glu Uncertain significance ★ ⚠ same type
- DOCK10 p.Ala1284Thr 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/dock10-p-asp2034 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown