ANPEP p.Glu770=
c.2310G>A · rs79477244 · VCV780007
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.71%, afr)
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 -7.7 | GERP -4.2 |
| Overall | ||
| CADD | 0.127 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.71%
African / African-American · 2,030/75,042 alleles
Filtering AF
2.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.57%
Overall
0.137%
2,216/1,614,172 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.71% | 37 |
| Remaining individualsnot grpmax-eligible | 0.165% | 607 |
| Admixed American | 0.0983% | 1,017 |
| Middle Eastern | 0.0825% | 1,212 |
| South Asian | 0.00549% | 18,217 |
| European (non-Finnish) | 0.00119% | 84,287 |
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
- ANPEP
- Protein
- p.Glu770=
- Coding
- c.2310G>A
- MANE Select
- NM_001150
- dbSNP
- rs79477244
- Type
- single nucleotide variant
- Location
- chr15:89792502 (GRCh38)
- Gene constraint
- LOEUF 0.705 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.55 · 15 PDB
- Residue 770
- an α-helix; the 'metalloprotease' region
Similar variants
- ANPEP p.Glu770Asp Uncertain significance ★ ⚠ same residue
- 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.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-glu770 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown