Q10Q (p.Gln10Gln) variant of BLM (RecQ-like DNA helicase BLM)
Q10Q (p.Gln10Gln) 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.
Q10Q (p.Gln10Gln) variant details
- p.Gln10Gln
- rs2151145010
- gnomAD 15-90747422-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 7.92
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available