BAAT p.Ala34=
c.102A>T · rs774722346 · VCV498835
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0334%, 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 -1.1 | GERP -0.74 |
| Overall | ||
| CADD | 4.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0334%
East Asian · 15/44,878 alleles
Filtering AF
0.0206%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0166%
Overall
0.00223%
36/1,613,646 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0334% | 2,992 |
| South Asian | 0.00769% | 13,012 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,472 |
| European (non-Finnish) | 0.0011% | 90,747 |
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
- BAAT
- Protein
- p.Ala34=
- Coding
- c.102A>T
- MANE Select
- NM_001701
- dbSNP
- rs774722346
- Type
- single nucleotide variant
- Location
- chr9:101371303 (GRCh38)
- Gene constraint
- LOEUF 1.049 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31
- Residue 34
- a UniProt-annotated variant site (in fhca3; contrary to wild-type, undetectable expression in hepatocytes)
Similar variants
- BAAT c.*1597C>A Uncertain significance ★★ same type
- BAAT p.Ala337Thr Uncertain significance ★★ ⚠ same type
- BAAT p.Arg130Ser Uncertain significance ★★ ⚠ same type
- BAAT p.Asp42Glu Uncertain significance ★★ ⚠ same type
- BAAT p.Glu54Lys Uncertain significance ★★ ⚠ same type
- BAAT p.Gly41Arg Uncertain significance ★★ ⚠ same type
- BAAT p.His74Tyr Uncertain significance ★★ ⚠ same type
- BAAT p.Leu153Phe 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/baat-p-ala34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown