R34S (p.Arg34Ser) variant of NTHL1 (Endonuclease III-like protein 1)
R34S (p.Arg34Ser) 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; not provided; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- rs527315265
- ClinGen CA027426
- ClinVar RCV000802631
- ClinVar RCV001010673
- Conflicting interpretations
- Familial adenomatous polyposis 3; not provided; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 3; not provided; Hereditary cance)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)