TBCK p.Val596fs
c.1786_1787del · rs2149891925 · VCV1675955
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 20 of 26 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
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
- TBCK
- Protein
- p.Val596fs
- Coding
- c.1786_1787del
- MANE Select
- NM_001163435
- dbSNP
- rs2149891925
- Type
- Deletion
- Location
- chr4:106212823 (GRCh38)
- Gene constraint
- LOEUF 1.062 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.42
- Residue 596
- the rab-gap tbc domain
Similar variants
- TBCK c.2060-6793_2235+427del Pathogenic ★★ same type
- TBCK p.Arg431fs Pathogenic ★★ same type
- TBCK p.Asn457fs Pathogenic ★★ same type
- TBCK p.Cys353fs Pathogenic/Likely pathogenic ★★ same type
- TBCK p.Leu647fs Pathogenic ★★ same type
- TBCK p.Lys718fs Pathogenic/Likely pathogenic ★★ same type
- TBCK p.Met268fs Pathogenic ★★ same type
- TBCK p.Phe675fs Pathogenic/Likely 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/tbck-p-val596fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown