L869R (p.Leu869Arg) variant of ERBB2 (P04626)
L869R (p.Leu869Arg) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
L869R (p.Leu869Arg) variant details
- p.Leu869Arg
- rs1131692237
- ClinGen CA399304956
- cosmic curated COSV54063
- ClinVar RCV000491283
- Pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic (Lung adenocarcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)