A2A (p.Ala2Ala) variant of BLM (RecQ-like DNA helicase BLM)
A2A (p.Ala2Ala) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 15-90747398-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available