SERPING1 p.Pro102fs
c.305_317del · rs2135308474 · VCV1460243
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.24 | GERP -3 |
| Region caveats | ||
| Repeat context | tandem | AACCCACCACAC simple repeat · ambiguous alignment · confidence, not pathogenicity |
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
- SERPING1
- Protein
- p.Pro102fs
- Coding
- c.305_317del
- MANE Select
- NM_000062
- dbSNP
- rs2135308474
- Type
- Deletion
- Location
- chr11:57600127 (GRCh38)
- Gene constraint
- LOEUF 0.278 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.63 · 5 PDB
- Residue 102
- the 'disordered' region; the '7 x 4 aa tandem repeats of [qe]-p-t-[tq]' region; a UniProt-annotated variant site (in hae1; phenotype consistent with hereditary angioedema type 2)
Similar variants
- SERPING1 p.Pro102= Likely benign ★ same residue
- SERPING1 p.His314fs Pathogenic ★★ same type
- SERPING1 p.Leu386fs Pathogenic/Likely pathogenic ★★ same type
- SERPING1 p.Phe55fs Pathogenic ★★ same type
- SERPING1 p.Ser283fs Pathogenic ★★ same type
- SERPING1 p.Val332fs Pathogenic ★★ same type
- SERPING1 c.1029+1del Pathogenic ★ same type
- SERPING1 c.1030delG 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/serping1-p-pro102fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown