R32Q (p.Arg32Gln) variant of NTHL1 (Endonuclease III-like protein 1)
R32Q (p.Arg32Gln) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs1411639953
- ClinGen CA394298309
- ClinVar RCV000811166
- ClinVar RCV004028719
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 8.25
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)