T57H (p.Thr57His) variant of BLM (RecQ-like DNA helicase BLM)
T57H (p.Thr57His) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T57H (p.Thr57His) variant details
- p.Thr57His
- rs2151146763
- gnomAD 15-90749432-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available