S48Y (p.Ser48Tyr) variant of BLM (RecQ-like DNA helicase BLM)
S48Y (p.Ser48Tyr) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S48Y (p.Ser48Tyr) variant details
- p.Ser48Tyr
- gnomAD 15-90749411-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available