R15R (p.Arg15Arg) variant of BLM (RecQ-like DNA helicase BLM)
R15R (p.Arg15Arg) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R15R (p.Arg15Arg) variant details
- p.Arg15Arg
- rs1458732220
- gnomAD 15-90747437-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.46
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available