G20E (p.Gly20Glu) variant of NTHL1 (Endonuclease III-like protein 1)
G20E (p.Gly20Glu) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1430939825
- ClinGen CA394298453
- ClinVar RCV000808918
- ClinVar RCV002440734
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)