R11Q (p.Arg11Gln) variant of NTHL1 (Endonuclease III-like protein 1)
R11Q (p.Arg11Gln) 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 not provided; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs372992221
- ClinGen CA027789
- ClinVar RCV000792050
- ClinVar RCV001024430
- Uncertain significance
- not provided; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Familial adenomatous polyposis 3; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-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)