R13L (p.Arg13Leu) variant of NTHL1 (Endonuclease III-like protein 1)
R13L (p.Arg13Leu) 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 variant effect predictions, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- rs2084526654
- ClinGen CA394298552
- ClinVar RCV002259248
- TOPMed rs2084526654
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs3087469)
- UniProt: Uncertain significance (in dbSNP:rs3087469)
- 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)