S53* (p.Ser53Ter) variant of BLM (RecQ-like DNA helicase BLM)
S53* (p.Ser53Ter) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S53* (p.Ser53Ter) variant details
- p.Ser53Ter
- gnomAD 15-90749426-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 34.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available