S45N (p.Ser45Asn) variant of NTHL1 (Endonuclease III-like protein 1)
S45N (p.Ser45Asn) 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 not provided; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
S45N (p.Ser45Asn) variant details
- p.Ser45Asn
- rs1567372419
- ClinGen CA394298035
- ClinVar RCV003559985
- ClinVar RCV004943101
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.23
- ClinVar: Conflicting classifications of pathogenicity (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)