OTC p.Phe48fs
c.143_144del · rs2068301848 · VCV916070
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.24 | GERP 0.12, phastCons 0.98 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- OTC
- Protein
- p.Phe48fs
- Coding
- c.143_144del
- MANE Select
- NM_000531
- dbSNP
- rs2068301848
- Type
- Deletion
- Location
- chrX:38367355 (GRCh38)
- Structure
- AlphaFold pLDDT 91.94 · 4 PDB
Similar variants
- OTC p.Phe48= Likely benign ★ same residue
- OTC p.Phe48Ser Pathogenic same residue
- OTC c.299-8del Benign/Likely benign ★★ same type
- OTC c.216+1del Pathogenic ★ same type
- OTC c.718-2_731del Pathogenic ★ same type
- OTC p.Ala218fs Pathogenic ★ same type
- OTC p.Asn10fs Pathogenic ★ same type
- OTC p.Asn47fs Pathogenic ★ 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/otc-p-phe48fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown