S14N (p.Ser14Asn) variant of NTHL1 (Endonuclease III-like protein 1)
S14N (p.Ser14Asn) 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 Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- rs746090969
- ClinGen CA027818
- ClinVar RCV001057848
- ClinVar RCV002374937
- Uncertain significance
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 21.70
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Uncertain significance (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)