NFE2L2 p.Pro595=
c.1785C>G · rs2105450778 · VCV1555815
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 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 5.2 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 10.12 | PHRED · no single calibrated threshold — expert panels disagree |
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
- NFE2L2
- Protein
- p.Pro595=
- Coding
- c.1785C>G
- MANE Select
- NM_006164
- dbSNP
- rs2105450778
- Type
- single nucleotide variant
- Location
- chr2:177230818 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI 0.50 (gnomAD)
- Structure
- AlphaFold pLDDT 61.72 · 23 PDB
- Residue 595
- the 'disordered' region; the 'mediates interaction with chd6 and is necessary to activate transcription' region
Similar variants
- NFE2L2 p.Ala249Ser Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Ala496Gly Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Arg34Gln Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Arg449Cys Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Arg569Cys Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Asn101Ser Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Asn225Ser Uncertain significance ★★ ⚠ same type
- NFE2L2 p.Asn278Ser 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/nfe2l2-p-pro595 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown