S48S (p.Ser48Ser) variant of BLM (RecQ-like DNA helicase BLM)
S48S (p.Ser48Ser) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD 15-90749412-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 7.40
- Population evidence available
- Structural context available
- Literature evidence available