DOCK4 p.Asp192=
c.576C>T · rs1586555130 · VCV730742
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.257 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.16 | GERP -1.6, phastCons 0.75 |
| Overall | ||
| CADD | 4.24 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DOCK4
- Protein
- p.Asp192=
- Coding
- c.576C>T
- MANE Select
- NM_001363540
- dbSNP
- rs1586555130
- Type
- single nucleotide variant
- Location
- chr7:111977257 (GRCh38)
- Gene constraint
- LOEUF 0.445 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.47
Similar variants
- DOCK4 p.Arg490Trp Uncertain significance ★★ ⚠ same type
- DOCK4 p.Gln1223Arg Uncertain significance ★★ ⚠ same type
- DOCK4 p.His1716Tyr Uncertain significance ★★ ⚠ same type
- DOCK4 p.Pro1641Leu Uncertain significance ★★ ⚠ same type
- DOCK4 p.Ser750Arg Uncertain significance ★★ ⚠ same type
- DOCK4 c.550-8T>C Benign/Likely benign ★★ same type
- DOCK4 p.Arg106Cys Benign/Likely benign ★★ ⚠ same type
- DOCK4 p.Arg106His Benign/Likely benign ★★ 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/dock4-p-asp192 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown