ASS1 p.Asp387=
c.1161T>C · rs1193686175 · VCV1137400
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000509%, nfe)
Conditions
1
citrullinemia
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 -6.2 | GERP -1 |
| Overall | ||
| CADD | 2.65 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000509%
European (non-Finnish) · 6/1,179,914 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000411%
6/1,461,548 alleles · very rare
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.Asp387=
- Coding
- c.1161T>C
- MANE Select
- NM_054012
- dbSNP
- rs1193686175
- Type
- single nucleotide variant
- Location
- chr9:130499538 (GRCh38)
- Gene constraint
- LOEUF 1.14 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.64 · 1 PDB
- Residue 387
- a UniProt-annotated variant site (in ctln1); an α-helix
Similar variants
- ASS1 c.1194-1G>C Pathogenic/Likely pathogenic ★★ same condition
- ASS1 c.174+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ASS1 c.174+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ASS1 c.175-1119G>A Pathogenic/Likely pathogenic ★★ same condition
- ASS1 c.364-2A>T Likely pathogenic ★★ same condition
- ASS1 c.421-2A>G Pathogenic ★★ same condition
- ASS1 c.496-2A>G Pathogenic/Likely pathogenic ★★ same condition
- ASS1 c.689-2A>C 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-asp387 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown