A3A (p.Ala3Ala) variant of BLM (RecQ-like DNA helicase BLM)
A3A (p.Ala3Ala) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1596215598
- gnomAD 15-90747401-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 9.55
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available