DOCK2 p.Leu592fs
c.1773dup · rs2532625303 · VCV2578989
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 52 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -9.5 | GERP -4.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DOCK2
- Protein
- p.Leu592fs
- Coding
- c.1773dup
- MANE Select
- NM_004946
- dbSNP
- rs2532625303
- Type
- Duplication
- Location
- chr5:169714135 (GRCh38)
- Gene constraint
- LOEUF 0.421 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.40 · 6 PDB
- Residue 592
- the c2 dock-type domain
Similar variants
- DOCK2 c.1483-17dup Benign ★★ same type
- DOCK2 p.His52fs Pathogenic ★ same type
- DOCK2 p.Tyr106fs Pathogenic ★ same type
- INSYN2B p.Asn16Ter Uncertain significance ★ same type
- DOCK2 c.1056-10dup Benign ★ same type
- DOCK2 c.1660-11dup Likely benign ★ same type
- DOCK2 c.2898+22_2898+23dup Likely benign ★ same type
- DOCK2 p.Leu1244fs 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/dock2-p-leu592fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown