R13W (p.Arg13Trp) variant of NTHL1 (Endonuclease III-like protein 1)
R13W (p.Arg13Trp) 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 Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs3087469
- ClinGen CA027813
- ClinVar RCV000802855
- ClinVar RCV001024999
- Conflicting interpretations
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Likely benign (in dbSNP:rs3087469)
- UniProt: Likely benign (in dbSNP:rs3087469)
- Most common in the REMAINING population (allele frequency 0.00047)
- 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)