T57T (p.Thr57Thr) variant of BLM (RecQ-like DNA helicase BLM)
T57T (p.Thr57Thr) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T57T (p.Thr57Thr) variant details
- p.Thr57Thr
- rs1895602030
- gnomAD 15-90749439-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.73
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available