L4* (p.Leu4Ter) variant of NTHL1 (Endonuclease III-like protein 1)
L4* (p.Leu4Ter) in NTHL1 (Endonuclease III-like protein 1) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L4* (p.Leu4Ter) variant details
- p.Leu4Ter
- rs1413587495
- ClinGen CA394298671
- ClinVar RCV001909047
- ClinVar RCV003458235
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)