TAB1 p.His355=
c.1065C>T · rs36044118 · VCV777712
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.6%, eas)
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 -15 | GERP -3.1 |
| Overall | ||
| CADD | 0.375 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.6%
East Asian · 2,062/44,872 alleles
Filtering AF
4.43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.36%
Overall
0.391%
6,306/1,613,664 alleles · low-frequency
exomes 4,167/1,461,314 · genomes 2,139/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 4.6% | 22 |
| African / African-American | 4.17% | 24 |
| Remaining individualsnot grpmax-eligible | 0.717% | 140 |
| Admixed American | 0.5% | 200 |
| Middle Eastern | 0.363% | 276 |
| South Asian | 0.0955% | 1,047 |
| European (non-Finnish) | 0.0215% | 4,646 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,608 |
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
- TAB1
- Protein
- p.His355=
- Coding
- c.1065C>T
- MANE Select
- NM_006116
- dbSNP
- rs36044118
- Type
- single nucleotide variant
- Location
- chr22:39426846 (GRCh38)
- Gene constraint
- LOEUF 0.752 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.82 · 35 PDB
- Residue 355
- the ppm-type phosphatase domain; a β-strand
Similar variants
- TAB1 c.325-5C>T Benign ★★ same type
- TAB1 p.Ala171Val Uncertain significance ★ ⚠ same type
- TAB1 p.Ala225Ser Uncertain significance ★ ⚠ same type
- TAB1 p.Ala260Val Uncertain significance ★ ⚠ same type
- TAB1 p.Ala325Thr Uncertain significance ★ ⚠ same type
- TAB1 p.Ala397Thr Uncertain significance ★ ⚠ same type
- TAB1 p.Ala503Thr Uncertain significance ★ ⚠ same type
- TAB1 p.Ala98Val 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/tab1-p-his355 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown