Q6Q (p.Gln6Gln) variant of BLM (RecQ-like DNA helicase BLM)
Q6Q (p.Gln6Gln) 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.
Q6Q (p.Gln6Gln) variant details
- p.Gln6Gln
- rs372771577
- gnomAD 15-90747410-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0837
- CADD 0.44
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available