L57* (p.Leu57Ter) variant of MRE11 (P49959)
L57* (p.Leu57Ter) in MRE11 (P49959) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L57* (p.Leu57Ter) variant details
- p.Leu57Ter
- rs951805101
- ClinGen CA16040414
- ClinVar RCV000566920
- ClinVar RCV002526785
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)