BAAT p.His336=
c.1008C>T · rs144681311 · VCV498672
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0263%, 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 -0.25 | GERP -2.3 |
| Overall | ||
| CADD | 1.223 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0263%
South Asian · 24/91,090 alleles
Filtering AF
0.0181%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0154%
Overall
0.00799%
129/1,614,014 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0263% | 3,795 |
| East Asian | 0.0223% | 4,489 |
| European (non-Finnish) | 0.00754% | 13,259 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,827 |
| Admixed American | 0.00333% | 29,997 |
| African / African-American | 0.00133% | 74,918 |
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.His336=
- Coding
- c.1008C>T
- MANE Select
- NM_001701
- dbSNP
- rs144681311
- Type
- single nucleotide variant
- Location
- chr9:101362677 (GRCh38)
- Gene constraint
- LOEUF 1.049 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31
- Residue 336
- 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-his336 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown