R32G (p.Arg32Gly) variant of NTHL1 (Endonuclease III-like protein 1)
R32G (p.Arg32Gly) 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; not provided. The record also includes variant effect predictions, published literature, and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- rs1285624591
- ClinGen CA394298312
- ClinVar RCV001238757
- ClinVar RCV002339660
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- MutPred 0.25
- ClinVar: Uncertain significance (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)