L13L (p.Leu13Leu) variant of BLM (RecQ-like DNA helicase BLM)
L13L (p.Leu13Leu) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 15-90747429-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available