ESM1v

Evaluates missense variants using zero-shot protein language modeling.

Key Info

• URL: https://github.com/facebookresearch/esm
• Category: VEP
• API: Yes
• Free: Free
• ACMG Relevance: PP3, BP4
• Link Status: ARCHIVED 2026-04-09 — repo archived by Facebook Research (Feb 2024, ★4031). Successor: ESM3 at https://github.com/evolutionaryscale/esm

Why It Matters

Operates entirely free of clinical training data, making it highly immune to circularity biases when scoring VUS.

How to Use

See https://github.com/facebookresearch/esm for documentation and access.

STRC Research Usage

PARTIAL — fair-esm package installed. Requires GPU and proper model loading for zero-shot variant scoring. Would give clinical-data-free pathogenicity estimate.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]