PRSS1 c.488C>A
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary chronic pancreatitis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- PRSS1
- Coding
- c.488C>A
- MANE Select
- NM_002769
- Type
- single nucleotide variant
- Gene constraint
- LOEUF 1.301 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.24 · 12 PDB
Disease context
hereditary chronic pancreatitis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal dominant hereditary chronic pancreatitis (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Childhood
- Prevalence
- 1-9 / 1 000 000 (France)
Similar variants
- PRSS1 p.Ala16Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PRSS1 p.Arg116Cys Pathogenic/Likely pathogenic ★★ same condition
- PRSS1 p.Arg122Cys Pathogenic ★★ same condition
- PRSS1 p.Arg122His Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PRSS1 p.Asn29Ile Pathogenic ★★ ⚠ same condition
- PRSS1 c.200+1G>C Uncertain significance ★★ same condition
- PRSS1 c.201-7C>A Uncertain significance ★★ same condition
- PRSS1 c.201-8C>A Uncertain significance ★★ 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/prss1-c-488c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown