BAAT p.Ser10=
c.30T>C · rs746784051 · VCV597957
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0154%, 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 -0.58 | GERP -0.96 |
| Overall | ||
| CADD | 6.199 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0154%
South Asian · 14/91,076 alleles
Filtering AF
0.0092%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00735%
Overall
0.0013%
21/1,612,680 alleles · ultra-rare
exomes 21/1,460,392 · genomes 0/152,288 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0154% | 6,505 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,240 |
| European (non-Finnish) | 0.000424% | 235,998 |
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.Ser10=
- Coding
- c.30T>C
- MANE Select
- NM_001701
- dbSNP
- rs746784051
- Type
- single nucleotide variant
- Location
- chr9:101371375 (GRCh38)
- Gene constraint
- LOEUF 1.049 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31
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-ser10 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown