G1135R (p.Gly1135Arg) variant of ROS1 (P08922)
G1135R (p.Gly1135Arg) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G1135R (p.Gly1135Arg) variant details
- p.Gly1135Arg
- rs151330473
- ClinGen CA3974982
- cosmic curated COSV63863
- ClinVar RCV003129620
- Pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.75
- MetaLR 0.50
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Lung adenocarcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)