THBD p.Pro23del
c.68_70del · rs2515206150 · VCV2876609
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00117%, sas)
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 -0.076 | GERP -3.2, phastCons 0.021 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00117%
South Asian · 1/85,486 alleles
Overall
6.4e-05%
1/1,562,672 alleles · very rare
exomes 1/1,410,438 · genomes 0/152,234 · 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
- THBD
- Protein
- p.Pro23del
- Coding
- c.68_70del
- MANE Select
- NM_000361
- dbSNP
- rs2515206150
- Type
- Deletion
- Location
- chr20:23049435 (GRCh38)
- Gene constraint
- LOEUF 1.938 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 79.35 · 13 PDB
Similar variants
- THBD p.Pro23Ser Uncertain significance ★ ⚠ same residue
- THBD p.Pro496fs Likely pathogenic ★★ same type
- THBD p.Glu144_Thr146del Uncertain significance ★★ same type
- THBD p.Ala43fs Likely pathogenic ★ same type
- THBD p.Cys349fs Likely pathogenic ★ same type
- THBD p.Val454fs Likely pathogenic ★ same type
- THBD p.Arg264fs Uncertain significance ★ same type
- THBD p.Asp418fs 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/thbd-p-pro23del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown