TUBB2B p.Pro243=
c.729G>A · VCV3604513
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.5e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | |
| Overall | ||
| CADD | 5.505 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.5e-05%
European (non-Finnish) · 1/1,176,342 alleles
Overall
6.24e-05%
1/1,603,014 alleles · very rare
exomes 1/1,461,184 · genomes 0/141,830 · 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
- TUBB2B
- Protein
- p.Pro243=
- Coding
- c.729G>A
- MANE Select
- NM_178012
- Type
- single nucleotide variant
- Location
- chr6:3225360 (GRCh38)
- Gene constraint
- LOEUF 0.338 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.09 · 3 PDB
Similar variants
- TUBB2B p.Pro243Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- TUBB2B p.Ala302Thr Likely pathogenic ★★ same type
- TUBB2B p.Arg2His Likely pathogenic ★★ same type
- TUBB2B p.Arg2Ser Pathogenic ★★ same type
- TUBB2B p.Arg380Cys Pathogenic ★★ same type
- TUBB2B p.Arg380His Pathogenic/Likely pathogenic ★★ same type
- TUBB2B p.Arg380Leu Likely pathogenic ★★ same type
- TUBB2B p.Cys303Tyr 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/tubb2b-p-pro243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown