E69* (p.Glu69Ter) variant of BLM (RecQ-like DNA helicase BLM)
E69* (p.Glu69Ter) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E69* (p.Glu69Ter) variant details
- p.Glu69Ter
- rs746195311
- ClinGen CA393839723
- ClinVar RCV000579258
- ExAC rs746195311
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.262
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available