TUBB8 p.Ser32=
c.96C>T · rs149334029 · VCV789607
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.38%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.016 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.9 | GERP -3.7 |
| Overall | ||
| CADD | 1.715 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.38%
African / African-American · 1,762/74,114 alleles
Filtering AF
2.28%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.25%
Overall
0.122%
1,917/1,573,994 alleles · low-frequency
exomes 895/1,421,724 · genomes 1,022/152,270 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.38% | 42 |
| Admixed American | 0.127% | 788 |
| Remaining individualsnot grpmax-eligible | 0.115% | 873 |
| Middle Eastern | 0.0198% | 5,054 |
| South Asian | 0.00343% | 29,133 |
| European (non-Finnish) | 0.00112% | 89,376 |
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
- TUBB8
- Protein
- p.Ser32=
- Coding
- c.96C>T
- MANE Select
- NM_177987
- dbSNP
- rs149334029
- Type
- single nucleotide variant
- Location
- chr10:48874 (GRCh38)
- Gene constraint
- LOEUF 1.286 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.99
- Residue 32
- a UniProt-annotated variant site (in ozema2; loss of alpha/beta-tubulin heterodimer assembly; loss of function in meiotic spindle assembly)
Similar variants
- TUBB8 p.Val255Met Likely pathogenic ★★ same type
- TUBB8 p.Ala313Val Uncertain significance ★★ ⚠ same type
- TUBB8 p.Arg380His Uncertain significance ★★ same type
- TUBB8 c.277+10G>A Benign ★★ same type
- TUBB8 c.277+129G>A Benign ★★ same type
- TUBB8 c.278-82G>A Benign ★★ same type
- TUBB8 c.57+26T>C Benign ★★ same type
- TUBB8 c.57+48C>T Benign ★★ 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/tubb8-p-ser32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown