PRSS12 p.Arg792=
c.2376G>A · rs199574216 · VCV436424
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.257%, amr)
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 0.73 | GERP -0.94, phastCons 0.12 |
| Overall | ||
| CADD | 14.71 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.257%
Admixed American · 154/60,014 alleles
Filtering AF
0.224%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.211%
Overall
0.017%
275/1,614,186 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.257% | 390 |
| Remaining individualsnot grpmax-eligible | 0.0192% | 5,209 |
| European (non-Finnish) | 0.00907% | 11,028 |
| African / African-American | 0.00266% | 37,524 |
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
- PRSS12
- Protein
- p.Arg792=
- Coding
- c.2376G>A
- MANE Select
- NM_003619
- dbSNP
- rs199574216
- Type
- single nucleotide variant
- Location
- chr4:118282188 (GRCh38)
- Gene constraint
- LOEUF 0.965 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.42
- Residue 792
- a disulfide bond; the peptidase s1 domain
Similar variants
- PRSS12 c.2320+6G>C Uncertain significance ★★ same type
- PRSS12 c.821-1G>A Uncertain significance ★★ same type
- PRSS12 c.*1615C>T Uncertain significance ★★ same type
- PRSS12 c.*221A>T Uncertain significance ★★ same type
- PRSS12 p.Ala547Asp Uncertain significance ★★ ⚠ same type
- PRSS12 p.Ala79Pro Uncertain significance ★★ ⚠ same type
- PRSS12 p.Arg292Trp Uncertain significance ★★ ⚠ same type
- PRSS12 p.Arg426Gln Uncertain significance ★★ ⚠ 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/prss12-p-arg792 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown