DOCK8 p.Arg317fs
c.947_948insA · VCV4822981
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 9 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- DOCK8
- Protein
- p.Arg317fs
- Coding
- c.947_948insA
- MANE Select
- NM_203447
- Type
- Insertion
- Location
- chr9:328074 (GRCh38)
- Gene constraint
- LOEUF 0.622 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.17
Similar variants
- DOCK8 p.Arg317Ter Pathogenic ★★ same residue
- DOCK8 p.Arg317Gln Uncertain significance ★★ ⚠ same residue
- DOCK8 p.Asp310fs Pathogenic ★★ same type
- DOCK8 c.3234+15_3234+16insCA Likely benign ★★ same type
- DOCK8 c.3234+20_3234+21insT Likely benign ★★ same type
- DOCK8 c.333-29_333-28insAT Benign ★★ same type
- DOCK8 c.894+74_894+75insC Benign ★★ same type
- DOCK8 c.3531-9_3531-8insCA 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/dock8-p-arg317fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown