E39D (p.Glu39Asp) variant of NTHL1 (Endonuclease III-like protein 1)
E39D (p.Glu39Asp) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- rs2548321780
- ClinGen CA394298113
- ClinVar RCV002391769
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)