BayesDel

Evaluates coding and non-coding variants utilizing a Bayesian modeling framework.

Key Info

• URL: https://github.com/broadinstitute/dbnsfp BROKEN — repo does not exist
• Alt URL: https://sites.google.com/site/jpaborb/bayesdel (author’s page)
• Category: VEP
• API: Pre-computed scores in dbNSFP (not standalone repo)
• Free: Free
• ACMG Relevance: PP3
• Link Status: BROKEN 2026-04-09 — BayesDel is distributed as pre-computed scores within dbNSFP, not a standalone GitHub repo.

Why It Matters

Seamlessly integrates functional genomic annotations to score regulatory non-coding elements alongside exonic missense changes.

How to Use

BayesDel scores are available via dbNSFP database. Download dbNSFP from https://sites.google.com/site/jpopgen/dbNSFP and query BayesDel columns. Also accessible via VarSome and Ensembl VEP plugins.

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]