G2032R (p.Gly2032Arg) variant of ROS1 (P08922)
G2032R (p.Gly2032Arg) in ROS1 (P08922) 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 0.82 / 1. The record also includes published literature and structural context.
G2032R (p.Gly2032Arg) variant details
- p.Gly2032Arg
- rs1057519788
- cosmic curated COSV10592
- Ensembl rs1057519788
- ClinGen CA16602597
- Pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.89
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- 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)