V47L (p.Val47Leu) variant of NTHL1 (Endonuclease III-like protein 1)
V47L (p.Val47Leu) 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.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- rs1210160367
- ClinGen CA394298006
- ClinVar RCV002394922
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- MutPred 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- 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)