ASS1 p.Phe128fs
c.381del · VCV3362551
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
citrullinemia type I
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 5 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ASS1
- Protein
- p.Phe128fs
- Coding
- c.381del
- MANE Select
- NM_054012
- Type
- Deletion
- Location
- chr9:130464127 (GRCh38)
- Gene constraint
- LOEUF 1.14 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.64 · 1 PDB
- Residue 128
- 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.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
- ASS1 p.Phe154fs Pathogenic/Likely pathogenic ★★ same condition
- ASS1 p.Phe317fs 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-phe128fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown