D70Y (p.Asp70Tyr) variant of BLM (RecQ-like DNA helicase BLM)
D70Y (p.Asp70Tyr) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
D70Y (p.Asp70Tyr) variant details
- p.Asp70Tyr
- ExAC rs769957028
- gnomAD rs769957028
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.02
- CADD 9.12
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available