S45R (p.Ser45Arg) variant of NTHL1 (Endonuclease III-like protein 1)
S45R (p.Ser45Arg) 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 not provided; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S45R (p.Ser45Arg) variant details
- p.Ser45Arg
- rs2150947604
- ClinGen CA394298026
- ClinVar RCV003558122
- ClinVar RCV004636779
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; 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)