ANPEP p.Ser415=
c.1245C>A · rs1596168501 · VCV745821
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 3.9 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 10.98 | 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
- ANPEP
- Protein
- p.Ser415=
- Coding
- c.1245C>A
- MANE Select
- NM_001150
- dbSNP
- rs1596168501
- Type
- single nucleotide variant
- Location
- chr15:89803937 (GRCh38)
- Gene constraint
- LOEUF 0.705 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.55 · 15 PDB
- Residue 415
- the 'metalloprotease' region; an α-helix
Similar variants
- ANPEP c.1437+8C>G Benign ★★ same type
- ANPEP c.1437+9C>G Benign ★★ same type
- ANPEP p.Ala311Val Benign ★★ ⚠ same type
- ANPEP p.Ala422Gly Likely benign ★★ same type
- ANPEP p.Ala671= Benign ★★ same type
- ANPEP p.Glu770= Benign ★★ same type
- ANPEP p.Leu100= Benign/Likely benign ★★ same type
- ANPEP p.Leu258Ile Likely benign ★★ 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/anpep-p-ser415 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown