DOCK8 p.Met935fs
c.2805_2811del · rs1554687151 · VCV452218
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 23 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.5, 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
- DOCK8
- Protein
- p.Met935fs
- Coding
- c.2805_2811del
- MANE Select
- NM_203447
- dbSNP
- rs1554687151
- Type
- Deletion
- Location
- chr9:386357 (GRCh38)
- Gene constraint
- LOEUF 0.622 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.17
Similar variants
- DOCK8 p.Met935Ile Uncertain significance ★ ⚠ same residue
- DOCK8 p.Ala11fs Pathogenic/Likely pathogenic ★★ same type
- DOCK8 p.Leu1754fs Pathogenic ★★ same type
- DOCK8 p.Phe1113fs Pathogenic/Likely pathogenic ★★ same type
- DOCK8 p.Tyr491fs Pathogenic ★★ same type
- DOCK8 c.2109+11del Benign/Likely benign ★★ same type
- DOCK8 c.2440+159del Benign ★★ same type
- DOCK8 c.3234+15del 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/dock8-p-met935fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown