F37L (p.Phe37Leu) variant of BLM (RecQ-like DNA helicase BLM)
F37L (p.Phe37Leu) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- gnomAD 15-90749375-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available