L9I (p.Leu9Ile) variant of BLM (RecQ-like DNA helicase BLM)
L9I (p.Leu9Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- gnomAD 15-90747417-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.29
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available