THAP1 p.Val77Ser
c.229_230delinsTC · VCV3906327
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 9.2 | GERP 2.4, phastCons 1 |
| Regional constraint | o/e 0.70 | unconstrained · MANE · 5,129 bp · p 1.3e-06 · regional, not allelic |
Variant & gene context
- Gene
- THAP1
- Protein
- p.Val77Ser
- Coding
- c.229_230delinsTC
- MANE Select
- NM_018105
- Type
- Indel
- Location
- chr8:42839223 (GRCh38)
- Gene constraint
- LOEUF 0.571 · pLI 0.90 (gnomAD)
- Structure
- AlphaFold pLDDT 71.61 · 3 PDB
Similar variants
- THAP1 p.Val77Met Uncertain significance ★ ⚠ same residue
- THAP1 p.Phe45fs Pathogenic ★★ same type
- THAP1 c.72-10_72-9delinsGC Uncertain significance ★ 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/thap1-p-val77ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown