L60* (p.Leu60Ter) variant of BLM (RecQ-like DNA helicase BLM)
L60* (p.Leu60Ter) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L60* (p.Leu60Ter) variant details
- p.Leu60Ter
- gnomAD 15-90749447-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 34.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available