MAX p.Glu145Lys
c.433G>A · VCV3901622
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4396 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4396 | ambiguous |
|---|---|---|
| REVEL | 0.52 | indeterminate |
| SaProt | LLR -11.89 | damaging |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 0.95, phastCons 1 |
| Regional constraint | o/e 0.64 | unconstrained · MANE · 17 kb · p 1.3e-05 · regional, not allelic |
| Overall | ||
| CADD | 24.9 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- MAX
- Protein
- p.Glu145Lys
- Coding
- c.433G>A
- MANE Select
- NM_002382
- Type
- single nucleotide variant
- Location
- chr14:65076526 (GRCh38)
- Gene constraint
- LOEUF 0.288 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.07 · 12 PDB
- Residue 145
- a UniProt-annotated variant site (in pcc; does not repress myc transcriptional activity); a UniProt-annotated variant site (in pcc; uncertain significance); the 'disordered' region
Similar variants
- MAX p.Glu145= Likely benign ★★ same residue
- MAX c.295+1G>A Pathogenic ★★ same type
- MAX c.295+1G>T Pathogenic ★★ same type
- MAX p.Ala67Asp Pathogenic/Likely pathogenic ★★ same type
- MAX p.Arg33Ter Pathogenic ★★ same type
- MAX p.Arg75Ter Pathogenic ★★ same type
- MAX p.Gln19Ter Pathogenic/Likely pathogenic ★★ same type
- MAX p.Gln91Ter 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/max-p-glu145lys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown