E82D (p.Glu82Asp) variant of NFE2L2 (Q16236)
E82D (p.Glu82Asp) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
E82D (p.Glu82Asp) variant details
- p.Glu82Asp
- rs2105458487
- ClinGen CA349380413
- NCI-TCGA Cosmic COSV6796
- Likely pathogenic
- Lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.82
- MetaLR 0.21
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Lung cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)