L25* (p.Leu25Ter) variant of BLM (RecQ-like DNA helicase BLM)
L25* (p.Leu25Ter) 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 0.34 / 1. The record also includes published literature and structural context.
L25* (p.Leu25Ter) variant details
- p.Leu25Ter
- rs1895534883
- ClinGen CA393838962
- ClinVar RCV001878750
- Ensembl rs1895534883
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 0.02
- SIFT 0.08
- MutPred 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)