T41T (p.Thr41Thr) variant of BLM (RecQ-like DNA helicase BLM)
T41T (p.Thr41Thr) 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.
T41T (p.Thr41Thr) variant details
- p.Thr41Thr
- gnomAD 15-90749391-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0941
- CADD 1.90
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available