T50T (p.Thr50Thr) variant of BLM (RecQ-like DNA helicase BLM)
T50T (p.Thr50Thr) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T50T (p.Thr50Thr) variant details
- p.Thr50Thr
- rs760605610
- gnomAD 15-90749418-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.093
- CADD 1.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available