S43S (p.Ser43Ser) variant of BLM (RecQ-like DNA helicase BLM)
S43S (p.Ser43Ser) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- rs767605181
- gnomAD 15-90749397-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0972
- CADD 2.34
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Literature evidence available