R49C (p.Arg49Cys) variant of NTHL1 (Endonuclease III-like protein 1)
R49C (p.Arg49Cys) 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; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs371105614
- ClinGen CA276765709
- ClinVar RCV000809525
- ClinVar RCV002397662
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 21.40
- PolyPhen-2 0.52
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)