R19R (p.Arg19Arg) variant of BLM (RecQ-like DNA helicase BLM)
R19R (p.Arg19Arg) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- gnomAD 15-90747449-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available