R13Q (p.Arg13Gln) variant of NTHL1 (Endonuclease III-like protein 1)
R13Q (p.Arg13Gln) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs2084526654
- ClinGen CA394298551
- ClinVar RCV002706313
- ClinVar RCV005382460
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs3087469)
- UniProt: Uncertain significance (in dbSNP:rs3087469)
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)