SERPINF1 p.Pro375=
c.1125A>G · rs2543495178 · VCV2770661
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -2.4 | GERP -5.1 |
| Overall | ||
| CADD | 0.498 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- SERPINF1
- Protein
- p.Pro375=
- Coding
- c.1125A>G
- MANE Select
- NM_002615
- dbSNP
- rs2543495178
- Type
- single nucleotide variant
- Location
- chr17:1777314 (GRCh38)
- Gene constraint
- LOEUF 1.06 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 90.86 · 3 PDB
- Residue 375
- the 'o-glycosylated at one site' region
Similar variants
- SERPINF1 c.787-617G>A Likely pathogenic ★★ same type
- SERPINF1 p.Arg303Ter Pathogenic/Likely pathogenic ★★ same type
- SERPINF1 p.Arg99Ter Pathogenic ★★ same type
- SERPINF1 p.Gln178Ter Pathogenic ★★ same type
- SERPINF1 p.Gln185Ter Pathogenic ★★ same type
- SERPINF1 p.Gln2Ter Likely pathogenic ★★ same type
- SERPINF1 p.Gly270Ter Pathogenic ★★ same type
- SERPINF1 c.-37C>A 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/serpinf1-p-pro375 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown