C24G (p.Cys24Gly) variant of NTHL1 (Endonuclease III-like protein 1)
C24G (p.Cys24Gly) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The record also includes variant effect predictions, published literature, and structural context.
C24G (p.Cys24Gly) variant details
- p.Cys24Gly
- rs1596227962
- ClinGen CA394298399
- ClinVar RCV003083446
- ClinVar RCV006411784
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- MutPred 0.23
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)