SERPINF1 p.Phe384=
c.1152C>T · rs2151213537 · VCV1591146
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000508%, nfe)
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 0.067 | GERP -3.2, phastCons 0.003 |
| Overall | ||
| CADD | 2.481 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000508%
European (non-Finnish) · 6/1,180,026 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000372%
6/1,614,144 alleles · very rare
exomes 6/1,461,892 · genomes 0/152,252 · joint denominator
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
- SERPINF1
- Protein
- p.Phe384=
- Coding
- c.1152C>T
- MANE Select
- NM_002615
- dbSNP
- rs2151213537
- Type
- single nucleotide variant
- Location
- chr17:1777341 (GRCh38)
- Gene constraint
- LOEUF 1.06 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 90.86 · 3 PDB
Similar variants
- SERPINF1 p.Phe384Leu Uncertain significance ⚠ same residue
- SERPINF1 p.Phe384fs Pathogenic/Likely pathogenic ★★ same residue
- 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
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-phe384 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown