G18W (p.Gly18Trp) variant of NTHL1 (Endonuclease III-like protein 1)
G18W (p.Gly18Trp) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- rs1456331577
- ClinGen CA394298486
- ClinVar RCV002036370
- ClinVar RCV005445583
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 20.30
- PolyPhen-2 0.47
- SIFT 0.03
- 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)