TUBA8 p.Pro307=
c.921G>A · rs767510308 · VCV1594691
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00772%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.3 | |
| Overall | ||
| CADD | 0.861 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00772%
European (non-Finnish) · 91/1,178,810 alleles
Filtering AF
0.0064%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00593%
Overall
0.00608%
98/1,611,788 alleles · very rare
exomes 91/1,459,662 · genomes 7/152,126 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00772% | 12,954 |
| African / African-American | 0.00401% | 24,949 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,188 |
| East Asian | 0.00223% | 44,884 |
| Admixed American | 0.00167% | 59,866 |
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
- TUBA8
- Protein
- p.Pro307=
- Coding
- c.921G>A
- MANE Select
- NM_018943
- dbSNP
- rs767510308
- Type
- single nucleotide variant
- Location
- chr22:18126899 (GRCh38)
- Gene constraint
- LOEUF 1.117 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.24
Similar variants
- TUBA8 p.Pro307Leu Uncertain significance ★ ⚠ same residue
- TUBA8 p.Pro307del Uncertain significance ★ same residue
- TUBA8 p.Ala273Thr Uncertain significance ★★ ⚠ same type
- TUBA8 p.Ala383Val Uncertain significance ★★ ⚠ same type
- TUBA8 p.Ala385Glu Uncertain significance ★★ ⚠ same type
- TUBA8 p.Ala385Val Uncertain significance ★★ same type
- TUBA8 p.Ala400Thr Uncertain significance ★★ ⚠ same type
- TUBA8 p.Arg121Cys 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/tuba8-p-pro307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown