S53S (p.Ser53Ser) variant of BLM (RecQ-like DNA helicase BLM)
S53S (p.Ser53Ser) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S53S (p.Ser53Ser) variant details
- p.Ser53Ser
- rs753606820
- gnomAD 15-90749427-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.48
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available