A18A (p.Ala18Ala) variant of BLM (RecQ-like DNA helicase BLM)
A18A (p.Ala18Ala) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs1895534219
- gnomAD 15-90747446-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 10.30
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available