MutScore

Assesses the specific fitness effects and loss-of-function potential of genetic variants.

Key Info

• URL: https://github.com/mutscore BROKEN — GitHub org does not exist
• Category: VEP
• API: Yes
• Free: Free
• ACMG Relevance: PP3
• Link Status: BROKEN 2026-04-09 — GitHub org mutscore not found. Tool may be paper-only or hosted elsewhere. Needs manual investigation.

Why It Matters

Optimized to detect high-impact functional disruptions that broad-spectrum pathogenicity tools frequently overlook.

How to Use

Original repo link broken. Search for MutScore in the associated publication for alternative download or web access.

STRC Research Usage

Documented. Requires local installation or specialized access for STRC E1659A testing.

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]