Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
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 1.2 | GERP 0.93, phastCons 1 |
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
- CYP2E1
- Protein
- p.Phe421=
- Coding
- c.1263=
- MANE Select
- NM_000773
- dbSNP
- rs2515641
- Type
- single nucleotide variant
- Location
- chr10:133537858 (GRCh38)
- Gene constraint
- LOEUF 0.914 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.22 · 6 PDB
- Residue 421
- a β-strand
Similar variants
- CYP2E1 p.Asn204= Benign ★★ same type
- CYP2E1 p.His457Leu Benign ★★ ⚠ same type
- CYP2E1 p.Ile321= Benign ★★ same type
- CYP2E1 p.Pro348= Benign ★★ same type
- CYP2E1 p.Ser98= Benign ★★ same type
- CYP2E1 p.Ala105Val Uncertain significance ★ ⚠ same type
- CYP2E1 p.Ala175Val Uncertain significance ★ ⚠ same type
- CYP2E1 p.Ala294Ser Uncertain significance ★ ⚠ 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/cyp2e1-p-phe421 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown