TK2 p.Glu201del
c.598GAG[1] · rs2507088012 · VCV2012814
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 5 | GERP 1.5, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,956 alleles
Overall
6.2e-05%
1/1,614,052 alleles · very rare
exomes 1/1,461,802 · genomes 0/152,250 · joint denominator
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
- TK2
- Protein
- p.Glu201del
- Coding
- c.598GAG[1]
- MANE Select
- NM_004614
- dbSNP
- rs2507088012
- Type
- Microsatellite
- Location
- chr16:66517151 (GRCh38)
- Gene constraint
- LOEUF 1.101 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.01
Similar variants
- TK2 p.Lys50fs Pathogenic ★★ same type
- TK2 p.Thr74fs Pathogenic ★ same type
- TK2 c.699+6_699+9del Conflicting classifications of pathogenicity ★ same type
- TK2 p.Phe70del 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/tk2-p-glu201del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown