TUBB2A p.Ser95=
c.285T>C · rs543611558 · VCV1637565
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00549%, sas)
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 | GERP -4.1 |
| Overall | ||
| CADD | 0.108 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00549%
South Asian · 5/91,052 alleles
Filtering AF
0.00223%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00198%
Overall
0.00279%
45/1,613,356 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00549% | 18,210 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,242 |
| European (non-Finnish) | 0.00305% | 32,775 |
| East Asian | 0.00223% | 44,868 |
| African / African-American | 0.00134% | 74,654 |
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
- TUBB2A
- Protein
- p.Ser95=
- Coding
- c.285T>C
- MANE Select
- NM_001069
- dbSNP
- rs543611558
- Type
- single nucleotide variant
- Location
- chr6:3154916 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 92.44 · 3 PDB
Similar variants
- TUBB p.Asn52Ser Pathogenic/Likely pathogenic ★★ ⚠ same type
- TUBB p.Asp327Asn Pathogenic/Likely pathogenic ★★ same type
- TUBB p.Gln15His Likely pathogenic ★★ same type
- TUBB p.Glu111Lys Pathogenic/Likely pathogenic ★★ same type
- TUBB p.Glu401Lys Pathogenic ★★ same type
- TUBB p.Met299Val Pathogenic ★★ same type
- TUBB p.Thr221Ile Pathogenic/Likely pathogenic ★★ same type
- TUBB p.Val353Ile Pathogenic/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/tubb2a-p-ser95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown