DOCK6 p.Ser352fs
c.1054dup · rs2513161109 · VCV2845857
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 2.4, phastCons 1 |
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
- DOCK6
- Protein
- p.Ser352fs
- Coding
- c.1054dup
- MANE Select
- NM_020812
- dbSNP
- rs2513161109
- Type
- Duplication
- Location
- chr19:11243851 (GRCh38)
- Gene constraint
- LOEUF 0.87 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.78 · 7 PDB
Similar variants
- DOCK6 c.2815-37_2815-17dup Benign/Likely benign ★★ same type
- DOCK6 c.4022-2dup Benign ★★ same type
- DOCK6 p.Arg429fs Pathogenic ★ same type
- DOCK6 p.Cys1892fs Pathogenic ★ same type
- DOCK6 p.Glu28fs Likely pathogenic ★ same type
- DOCK6 p.Gly962fs Pathogenic ★ same type
- DOCK6 p.His34fs Likely pathogenic ★ same type
- DOCK6 p.His810fs 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/dock6-p-ser352fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown