T68T (p.Thr68Thr) variant of BLM (RecQ-like DNA helicase BLM)
T68T (p.Thr68Thr) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T68T (p.Thr68Thr) variant details
- p.Thr68Thr
- rs199927688
- gnomAD 15-90749472-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0809
- CADD 0.04
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available