ASS1 p.Arg100fs
c.299del · rs2490531804 · VCV2679072
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- ASS1
- Protein
- p.Arg100fs
- Coding
- c.299del
- MANE Select
- NM_054012
- dbSNP
- rs2490531804
- Type
- Deletion
- Location
- chr9:130458525 (GRCh38)
- Gene constraint
- LOEUF 1.14 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.64 · 1 PDB
- Residue 100
- an α-helix; a UniProt-annotated variant site (in ctln1)
Disease context
citrullinemia type I — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Citrullinemia type I (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- ASS1 p.Arg100His Uncertain significance ★★ ⚠ same residue
- ASS1 p.Arg100Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
- ASS1 p.Arg95fs Likely pathogenic ★★ same condition
- ASS1 p.Gln107fs Pathogenic/Likely pathogenic ★★ same condition
- ASS1 p.Gln350fs Likely pathogenic ★★ same condition
- ASS1 p.Glu283fs Pathogenic ★★ same condition
- ASS1 p.Glu298fs Pathogenic ★★ same condition
- ASS1 p.Phe150fs Pathogenic/Likely pathogenic ★★ same condition
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/ass1-p-arg100fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown