ASPA p.Pro245fs
c.734del · rs2543648257 · VCV2815511
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (5 of 6, 11 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.16 | GERP -3.7, 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
- ASPA
- Protein
- p.Pro245fs
- Coding
- c.734del
- MANE Select
- NM_000049
- dbSNP
- rs2543648257
- Type
- Deletion
- Location
- chr17:3494448 (GRCh38)
- Gene constraint
- LOEUF 1.098 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 96.14 · 8 PDB
- Residue 245
- a turn
Disease context
Canavan disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Canavan disease (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- ASPA p.Asp204fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Cys152fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Cys276fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Gln12fs Pathogenic ★★ same condition
- ASPA p.Glu129fs Pathogenic ★★ same condition
- ASPA p.Ile11fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Lys103fs Likely pathogenic ★★ same condition
- ASPA p.Met82fs 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/aspa-p-pro245fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown