L25L (p.Leu25Leu) variant of BLM (RecQ-like DNA helicase BLM)
L25L (p.Leu25Leu) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L25L (p.Leu25Leu) variant details
- p.Leu25Leu
- rs1276887266
- gnomAD 15-90747467-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available