R32W (p.Arg32Trp) variant of NTHL1 (Endonuclease III-like protein 1)
R32W (p.Arg32Trp) 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; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs1285624591
- ClinGen CA394298310
- ClinVar RCV001304317
- ClinVar RCV002341606
- Conflicting interpretations
- not provided; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial adenomatous polyposis 3; Hereditary cance)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)