R33K (p.Arg33Lys) variant of NTHL1 (Endonuclease III-like protein 1)
R33K (p.Arg33Lys) 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 p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- rs1421779919
- ClinGen CA394298298
- ClinVar RCV001318948
- ClinVar RCV002375416
- Uncertain significance
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.0955
- CADD 3.97
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)