ERI1 p.Glu167=
c.501A>G · rs555519734 · VCV2658381
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.058%, sas)
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 4.1 | GERP 0.82, phastCons 1 |
| Overall | ||
| CADD | 12.08 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.058%
South Asian · 51/87,932 alleles
Filtering AF
0.0453%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0408%
Overall
0.00596%
95/1,594,258 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.058% | 1,724 |
| Middle Eastern | 0.0334% | 2,992 |
| Remaining individualsnot grpmax-eligible | 0.00811% | 12,329 |
| Admixed American | 0.00351% | 28,515 |
| European (non-Finnish) | 0.00299% | 33,423 |
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
- ERI1
- Protein
- p.Glu167=
- Coding
- c.501A>G
- MANE Select
- NM_153332
- dbSNP
- rs555519734
- Type
- single nucleotide variant
- Location
- chr8:9016324 (GRCh38)
- Gene constraint
- LOEUF 1.526 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.04 · 5 PDB
- Residue 167
- a UniProt-annotated variant site (in semdgc; likely pathogenic); a UniProt-annotated variant site (in hxal; likely pathogenic); the exonuclease domain; a β-strand
Similar variants
- ERI1 p.Ser333Tyr Uncertain significance ★★ ⚠ same type
- ERI1 p.Thr221Ala Uncertain significance ★★ ⚠ same type
- ERI1 p.Arg291= Benign ★★ same type
- ERI1 p.Arg304Ter Likely pathogenic ★ same type
- ERI1 p.Asp134Gly Likely pathogenic ★ same type
- ERI1 p.Asp298Gly Likely pathogenic ★ same type
- ERI1 p.Gln244Ter Likely pathogenic ★ same type
- ERI1 p.Glu150Asp 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/eri1-p-glu167 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown