L16* (p.Leu16Ter) variant of MRE11 (P49959)
L16* (p.Leu16Ter) in MRE11 (P49959) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L16* (p.Leu16Ter) variant details
- p.Leu16Ter
- rs2496653723
- ClinGen CA382381052
- ClinVar RCV002461453
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 28.40
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)