ANPEP p.Phe811=
c.2433C>T · rs76989453 · VCV720834
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.69%, 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 -1.6 | GERP -4.5 |
| Overall | ||
| CADD | 6.315 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.69%
African / African-American · 1,268/75,064 alleles
Filtering AF
1.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.58%
Overall
0.105%
1,693/1,614,224 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.69% | 59 |
| Admixed American | 0.213% | 469 |
| Remaining individualsnot grpmax-eligible | 0.125% | 801 |
| European (non-Finnish) | 0.0184% | 5,438 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| South Asian | 0.0011% | 91,086 |
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.Phe811=
- Coding
- c.2433C>T
- MANE Select
- NM_001150
- dbSNP
- rs76989453
- Type
- single nucleotide variant
- Location
- chr15:89792255 (GRCh38)
- Gene constraint
- LOEUF 0.705 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.55 · 15 PDB
- Residue 811
- an α-helix; a disulfide bond; the 'metalloprotease' region
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-phe811 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown