T20T (p.Thr20Thr) variant of BLM (RecQ-like DNA helicase BLM)
T20T (p.Thr20Thr) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- rs1596215695
- gnomAD 15-90747452-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 9.86
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available