ERAP2 p.Ile898=
c.2694C>T · rs182324439 · VCV721263
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.02%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.085 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
| Constraint at this position | ||
| Conservation | phyloP -0.42 | GERP -3 |
| Overall | ||
| CADD | 1.067 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.02%
East Asian · 448/43,714 alleles
Filtering AF
0.946%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.916%
Overall
0.0349%
558/1,597,948 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.02% | 98 |
| South Asian | 0.0953% | 1,050 |
| Remaining individualsnot grpmax-eligible | 0.0275% | 3,632 |
| Admixed American | 0.00347% | 28,832 |
| Finnishnot grpmax-eligible | 0.00157% | 63,684 |
| European (non-Finnish) | 0.000512% | 195,450 |
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
- ERAP2
- Protein
- p.Ile898=
- Coding
- c.2694C>T
- MANE Select
- NM_001040458 · reported on NM_022350
- dbSNP
- rs182324439
- Type
- single nucleotide variant
- Location
- chr5:96915724 (GRCh38)
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/erap2-p-ile898 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown