G18E (p.Gly18Glu) variant of NTHL1 (Endonuclease III-like protein 1)
G18E (p.Gly18Glu) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- rs1406320674
- ClinGen CA394298480
- ClinVar RCV003078293
- ClinVar RCV003274215
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)