BAAT p.Arg20Lys
c.58_59delinsAA · rs1554695131 · VCV499333
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -2.2 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 8,973 bp · p 0.5 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BAAT
- Protein
- p.Arg20Lys
- Coding
- c.58_59delinsAA
- MANE Select
- NM_001701
- dbSNP
- rs1554695131
- Type
- Indel
- Location
- chr9:101371346 (GRCh38)
- Gene constraint
- LOEUF 1.049 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31
- Residue 20
- a UniProt-annotated variant site (in fhca3; contrary to wild-type, undetectable expression in hepatocytes); a UniProt-annotated variant site (in)
Similar variants
- BAAT p.Arg20Gln Benign ★★ same residue
- BAAT p.Arg20Ter Pathogenic same residue
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-arg20lys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown