Protein variant analysis and interpretation

CATVariant helps researchers, clinicians, and learners examine how a genetic mutation may affect a protein by bringing computational predictions together with clinical, population, structural, experimental, disease, and literature evidence.

Evidence you can inspect

AlphaMissense and REVEL computational predictions, with CADD and ESM1b signals when present
ClinVar clinical evidence and gnomAD population frequencies
3D protein structure, structural neighborhoods, and hotspot analysis
Experimental measurements, disease and phenotype associations, and published literature

Computational predictions support prioritization and review; they are not clinical diagnoses.

Public CATVariant analyses

Public pages summarize completed human protein analyses and link each gene to a stable page that can be reviewed or shared.

1,024 public human protein analyses
1,804,000+ analyzed variants
1,004 analyses with 3D structure
1,024 analyses with literature evidence
1,000 analyses with population data
1,024 analyses with experimental data

Examples from public gene pages

KCNH2 — Long QT syndrome context; 2,334 public variants
SCN9A — Epilepsy context; 4,096 public variants
LMNA — Cardiomyopathy context; 1,553 public variants
MYBPC3 — Cardiomyopathy context; 2,593 public variants
KCNQ1 — Long QT syndrome context; 1,718 public variants

What you can start with

Start with a gene symbol, UniProt accession, protein sequence, structure, or custom list of variants. CATVariant maps the submitted changes to protein sequence and structure, then organizes predictions, frequencies, clinical records, experimental measurements, and literature for follow-up.